RGD:8688140 Rat Genome Database

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Variant: RGD:8688140 -  Homo sapiens

RGD ID: 8688140
RS ID: rs372279458
ClinVar ID: CV138631
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NF2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 30,000,094
GRCh38 22 29,604,105
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_511t2:c.107A>G
NM_016418.5:c.107A>G
LRG_511:g.5550A>G
NG_009057.1:g.5550A>G
More... 		11/13/2021 missense variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided all ages 1-9 / 100 000 Acoustic neurinoma bilateral; Acoustic schwannomas bilateral; AllHighlyPenetrant; Bilateral acoustic neurofibromatosis; Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Neurofibromatosis central type; Neurofibromatosis type II; NF 2; none provided; SCHWANNOMATOSIS, VESTIBULAR; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NF2
Accession:NM_001407065
Location:5UTRS;EXON

Gene Symbol:NF2
Accession:NM_001407056
Location:5UTRS;EXON

Gene Symbol:NF2
Accession:NM_001407053
Location:5UTRS;EXON

Gene Symbol:NF2
Accession:NM_001407067
Location:5UTRS;EXON

Gene Symbol:NF2
Accession:NM_181833
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGAIASRMSFSSLKRKQPKTFTVRIVTMDAEMEFSCEMKWKGKDLFDLVCRTLGLRETWFFGLQYTIKDTVAWLKMDKK
VLDHDVSKEEPVTFHFLAKFYPENAEEELVQEITQHLFFLQVKKQILDEKIYCPPEASVLLASYAVQAKLTLQSAKSRVA
FFEEL*

Gene Symbol:NF2
Accession:NM_001407064
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGAIASRMSFSSLKRKQPKTFTVRIVTMDAEMEFSCEVKKQILDEKIYCPPEASVLLASYAVQAKYGDYDPSVHKRGFL
AQEELLPKRVINLYQMTPEMWEERITAWYAEHRGRARDEAEMEYLKIAQDLEMYGVNYFAIRNKKGTELLLGVDALGLHI
YDPENRLTPKISFPWNEIRNISYSDKEFTIKPLDKKIDVFKFNSSKLRVNKLILQLCIGNHDLFMRRRKADSLEVQQMKA
QAREEKARKQMERQRLAREKQMREEAERTRDELERRLLQMKEEATMANEALMRSEETADLLAEKAQITEEEAKLLAQKAA
EAEQEMQRIKATAIRTEEEKRLMEQKVLEAEVLALKMAEESERRAKEADQLKQDLQEAREAERRAKQKLLEIATKPTYPP
MNPIPAPLPPDIPSFNLIGDSLSFDFKDTDMKRLSMEIEKENSPCRAPSPEWPSLKSSSR*

Gene Symbol:NF2
Accession:NM_181829
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGAIASRMSFSSLKRKQPKTFTVRIVTMDAEMEFSCEMKWKGKDLFDLVCRTLGLRETWFFGLQYTIKDTVAWLKMDKK
VKKQILDEKIYCPPEASVLLASYAVQAKYGDYDPSVHKRGFLAQEELLPKRVINLYQMTPEMWEERITAWYAEHRGRARD
EAEMEYLKIAQDLEMYGVNYFAIRNKKGTELLLGVDALGLHIYDPENRLTPKISFPWNEIRNISYSDKEFTIKPLDKKID
VFKFNSSKLRVNKLILQLCIGNHDLFMRRRKADSLEVQQMKAQAREEKARKQMERQRLAREKQMREEAERTRDELERRLL
QMKEEATMANEALMRSEETADLLAEKAQITEEEAKLLAQKAAEAEQEMQRIKATAIRTEEEKRLMEQKVLEAEVLALKMA
EESERRAKEADQLKQDLQEAREAERRAKQKLLEIATKPTYPPMNPIPAPLPPDIPSFNLIGDSLSFDFKDTDMKRLSMEI
EKEKVEYMEKSKHLQEQLNELKTEIEALKLKERETALDILHNENSDRGGSSKHNTIKKPQAQGRRPICI*

Gene Symbol:NF2
Accession:NM_181830
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGAIASRMSFSSLKRKQPKTFTVRIVTMDAEMEFSCEVKKQILDEKIYCPPEASVLLASYAVQAKYGDYDPSVHKRGFL
AQEELLPKRVINLYQMTPEMWEERITAWYAEHRGRARDEAEMEYLKIAQDLEMYGVNYFAIRNKKGTELLLGVDALGLHI
YDPENRLTPKISFPWNEIRNISYSDKEFTIKPLDKKIDVFKFNSSKLRVNKLILQLCIGNHDLFMRRRKADSLEVQQMKA
QAREEKARKQMERQRLAREKQMREEAERTRDELERRLLQMKEEATMANEALMRSEETADLLAEKAQITEEEAKLLAQKAA
EAEQEMQRIKATAIRTEEEKRLMEQKVLEAEVLALKMAEESERRAKEADQLKQDLQEAREAERRAKQKLLEIATKPTYPP
MNPIPAPLPPDIPSFNLIGDSLSFDFKDTDMKRLSMEIEKEKVEYMEKSKHLQEQLNELKTEIEALKLKERETALDILHN
ENSDRGGSSKHNTIKKPQAQGRRPICI*

Gene Symbol:NF2
Accession:NM_181832
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGAIASRMSFSSLKRKQPKTFTVRIVTMDAEMEFSCEMKWKGKDLFDLVCRTLGLRETWFFGLQYTIKDTVAWLKMDKK
VLDHDVSKEEPVTFHFLAKFYPENAEEELVQEITQHLFFLQVKKQILDEKIYCPPEASVLLASYAVQAKYGDYDPSVHKR
GFLAQEELLPKRVINLYQMTPEMWEERITAWYAEHRGRARDEAEMEYLKIAQDLEMYGVNYFAIRNKKGTELLLGVDALG
LHIYDPENRLTPKISFPWNEIRNISYSDKEFTIKPLDKKIDVFKFNSSKLRVNKLILQLCIGNHDLFMRRRKADSLEVQQ
MKAQAREEKARKQMERQRLAREKQMREEAERTRDELERRLLQMKEEATMANEALMRSEETADLLAEKAQITEEEAKLLAQ
KAAEAEQEMQRIKATAIRTEEEKRLMEQKVLEAEVLALKMAEESERRAKEADQLKQDLQEAREAERRAKQKLLEIATKPT
YPPMNPIPAPLPPDIPSFNLIGDSLSFDFKDTDMKRLSMEIEKEKVEYMEKSKHLQEQLNELKTEIEALKLKERETALDI
LHNENSDRGGSSKHNTIKKPQAQGRRPICI*

Gene Symbol:NF2
Accession:NM_001407054
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGAIASRMSFSSLKRKQPKTFTVRIVTMDAEMEFSCEMKWKGKDLFDLVCRTLGLRETWFFGLQYTIKDTVAWLKMDKK
VKKQILDEKIYCPPEASVLLASYAVQAKYGDYDPSVHKRGFLAQEELLPKRVINLYQMTPEMWEERITAWYAEHRGRARD
EAEMEYLKIAQDLEMYGVNYFAIRNKKGTELLLGVDALGLHIYDPENRLTPKISFPWNEIRNISYSDKEFTIKPLDKKID
VFKFNSSKLRVNKLILQLCIGNHDLFMRRRKADSLEVQQMKAQAREEKARKQMERQRLAREKQMREEAERTRDELERRLL
QMKEEATMANEALMRSEETADLLAEKAQITEEEAKLLAQKAAEAEQEMQRIKATAIRTEEEKRLMEQKVLEAEVLALKMA
EESERRAKEADQLKQDLQEAREAERRAKQKLLEIATKPTYPPMNPIPAPLPPDIPSFNLIGDSLSFDFKDTDMKRLSMEI
EKEKVEYMEKSKHLQEQLNELKTEIEALKLKERETALDILHNENSDRGGSSKHNTIKKLTLQSAKSRVAFFEEL*

Gene Symbol:NF2
Accession:NM_000268
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGAIASRMSFSSLKRKQPKTFTVRIVTMDAEMEFSCEMKWKGKDLFDLVCRTLGLRETWFFGLQYTIKDTVAWLKMDKK
VLDHDVSKEEPVTFHFLAKFYPENAEEELVQEITQHLFFLQVKKQILDEKIYCPPEASVLLASYAVQAKYGDYDPSVHKR
GFLAQEELLPKRVINLYQMTPEMWEERITAWYAEHRGRARDEAEMEYLKIAQDLEMYGVNYFAIRNKKGTELLLGVDALG
LHIYDPENRLTPKISFPWNEIRNISYSDKEFTIKPLDKKIDVFKFNSSKLRVNKLILQLCIGNHDLFMRRRKADSLEVQQ
MKAQAREEKARKQMERQRLAREKQMREEAERTRDELERRLLQMKEEATMANEALMRSEETADLLAEKAQITEEEAKLLAQ
KAAEAEQEMQRIKATAIRTEEEKRLMEQKVLEAEVLALKMAEESERRAKEADQLKQDLQEAREAERRAKQKLLEIATKPT
YPPMNPIPAPLPPDIPSFNLIGDSLSFDFKDTDMKRLSMEIEKEKVEYMEKSKHLQEQLNELKTEIEALKLKERETALDI
LHNENSDRGGSSKHNTIKKLTLQSAKSRVAFFEEL*

Gene Symbol:NF2
Accession:NM_001407055
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGAIASRMSFSSLKRKQPKTFTVRIVTMDAEMEFSCEVLDHDVSKEEPVTFHFLAKFYPENAEEELVQEITQHLFFLQV
KKQILDEKIYCPPEASVLLASYAVQAKYGDYDPSVHKRGFLAQEELLPKRVINLYQMTPEMWEERITAWYAEHRGRARDE
AEMEYLKIAQDLEMYGVNYFAIRNKKGTELLLGVDALGLHIYDPENRLTPKISFPWNEIRNISYSDKEFTIKPLDKKIDV
FKFNSSKLRVNKLILQLCIGNHDLFMRRRKADSLEVQQMKAQAREEKARKQMERQRLAREKQMREEAERTRDELERRLLQ
MKEEATMANEALMRSEETADLLAEKAQITEEEAKLLAQKAAEAEQEMQRIKATAIRTEEEKRLMEQKVLEAEVLALKMAE
ESERRAKEADQLKQDLQEAREAERRAKQKLLEIATKPTYPPMNPIPAPLPPDIPSFNLIGDSLSFDFKDTDMKRLSMEIE
KEKVEYMEKSKHLQEQLNELKTEIEALKLKERETALDILHNENSDRGGSSKHNTIKKLTLQSAKSRVAFFEEL*

Gene Symbol:NF2
Accession:NM_016418
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGAIASRMSFSSLKRKQPKTFTVRIVTMDAEMEFSCEMKWKGKDLFDLVCRTLGLRETWFFGLQYTIKDTVAWLKMDKK
VLDHDVSKEEPVTFHFLAKFYPENAEEELVQEITQHLFFLQVKKQILDEKIYCPPEASVLLASYAVQAKYGDYDPSVHKR
GFLAQEELLPKRVINLYQMTPEMWEERITAWYAEHRGRARDEAEMEYLKIAQDLEMYGVNYFAIRNKKGTELLLGVDALG
LHIYDPENRLTPKISFPWNEIRNISYSDKEFTIKPLDKKIDVFKFNSSKLRVNKLILQLCIGNHDLFMRRRKADSLEVQQ
MKAQAREEKARKQMERQRLAREKQMREEAERTRDELERRLLQMKEEATMANEALMRSEETADLLAEKAQITEEEAKLLAQ
KAAEAEQEMQRIKATAIRTEEEKRLMEQKVLEAEVLALKMAEESERRAKEADQLKQDLQEAREAERRAKQKLLEIATKPT
YPPMNPIPAPLPPDIPSFNLIGDSLSFDFKDTDMKRLSMEIEKEKVEYMEKSKHLQEQLNELKTEIEALKLKERETALDI
LHNENSDRGGSSKHNTIKKPQAQGRRPICI*

Gene Symbol:NF2
Accession:NM_181825
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGAIASRMSFSSLKRKQPKTFTVRIVTMDAEMEFSCEMKWKGKDLFDLVCRTLGLRETWFFGLQYTIKDTVAWLKMDKK
VLDHDVSKEEPVTFHFLAKFYPENAEEELVQEITQHLFFLQVKKQILDEKIYCPPEASVLLASYAVQAKYGDYDPSVHKR
GFLAQEELLPKRVINLYQMTPEMWEERITAWYAEHRGRARDEAEMEYLKIAQDLEMYGVNYFAIRNKKGTELLLGVDALG
LHIYDPENRLTPKISFPWNEIRNISYSDKEFTIKPLDKKIDVFKFNSSKLRVNKLILQLCIGNHDLFMRRRKADSLEVQQ
MKAQAREEKARKQMERQRLAREKQMREEAERTRDELERRLLQMKEEATMANEALMRSEETADLLAEKAQITEEEAKLLAQ
KAAEAEQEMQRIKATAIRTEEEKRLMEQKVLEAEVLALKMAEESERRAKEADQLKQDLQEAREAERRAKQKLLEIATKPT
YPPMNPIPAPLPPDIPSFNLIGDSLSFDFKDTDMKRLSMEIEKEKVEYMEKSKHLQEQLNELKTEIEALKLKERETALDI
LHNENSDRGGSSKHNTIKKPQAQGRRPICI*

Gene Symbol:NF2
Accession:NM_001407057
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGAIASRMSFSSLKRKQPKTFTVRIVTMDAEMEFSCEMKWKGKDLFDLVCRTLGLRETWFFGLQYTIKDTVAWLKMDKK
VLDHDVSKEEPVTFHFLAKFYPENAEEELVQEITQHLFFLQVKKQILDEKIYCPPEASVLLASYAVQAKYGDYDPSVHKR
GFLAQEELLPKRVINLYQMTPEMWEERITAWYAEHRGRARDEAEMEYLKIAQDLEMYGVNYFAIRFTIKPLDKKIDVFKF
NSSKLRVNKLILQLCIGNHDLFMRRRKADSLEVQQMKAQAREEKARKQMERQRLAREKQMREEAERTRDELERRLLQMKE
EATMANEALMRSEETADLLAEKAQITEEEAKLLAQKAAEAEQEMQRIKATAIRTEEEKRLMEQKVLEAEVLALKMAEESE
RRAKEADQLKQDLQEAREAERRAKQKLLEIATKPTYPPMNPIPAPLPPDIPSFNLIGDSLSFDFKDTDMKRLSMEIEKEK
VEYMEKSKHLQEQLNELKTEIEALKLKERETALDILHNENSDRGGSSKHNTIKKLTLQSAKSRVAFFEEL*

Gene Symbol:NF2
Accession:NM_001407062
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGAIASRMSFSSLKRKQPKTFTVRIVTMDAEMEFSCEMKWKGKDLFDLVCRTLGLRETWFFGLQYTIKDTVAWLKMDKK
VKKQILDEKIYCPPEASVLLASYAVQAKYGDYDPSVHKRGFLAQEELLPKRVINLYQMTPEMWEERITAWYAEHRGRARD
EAEMEYLKIAQDLEMYGVNYFAIRFTIKPLDKKIDVFKFNSSKLRVNKLILQLCIGNHDLFMRRRKADSLEVQQMKAQAR
EEKARKQMERQRLAREKQMREEAERTRDELERRLLQMKEEATMANEALMRSEETADLLAEKAQITEEEAKLLAQKAAEAE
QEMQRIKATAIRTEEEKRLMEQKVLEAEVLALKMAEESERRAKEADQLKQDLQEAREAERRAKQKLLEIATKPTYPPMNP
IPAPLPPDIPSFNLIGDSLSFDFKDTDMKRLSMEIEKEKVEYMEKSKHLQEQLNELKTEIEALKLKERETALDILHNENS
DRGGSSKHNTIKKLTLQSAKSRVAFFEEL*

Gene Symbol:NF2
Accession:NM_181828
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGAIASRMSFSSLKRKQPKTFTVRIVTMDAEMEFSCEVLDHDVSKEEPVTFHFLAKFYPENAEEELVQEITQHLFFLQV
KKQILDEKIYCPPEASVLLASYAVQAKYGDYDPSVHKRGFLAQEELLPKRVINLYQMTPEMWEERITAWYAEHRGRARDE
AEMEYLKIAQDLEMYGVNYFAIRNKKGTELLLGVDALGLHIYDPENRLTPKISFPWNEIRNISYSDKEFTIKPLDKKIDV
FKFNSSKLRVNKLILQLCIGNHDLFMRRRKADSLEVQQMKAQAREEKARKQMERQRLAREKQMREEAERTRDELERRLLQ
MKEEATMANEALMRSEETADLLAEKAQITEEEAKLLAQKAAEAEQEMQRIKATAIRTEEEKRLMEQKVLEAEVLALKMAE
ESERRAKEADQLKQDLQEAREAERRAKQKLLEIATKPTYPPMNPIPAPLPPDIPSFNLIGDSLSFDFKDTDMKRLSMEIE
KEKVEYMEKSKHLQEQLNELKTEIEALKLKERETALDILHNENSDRGGSSKHNTIKKPQAQGRRPICI*

Gene Symbol:NF2
Accession:NM_181831
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGAIASRMSFSSLKRKQPKTFTVRIVTMDAEMEFSCEVKKQILDEKIYCPPEASVLLASYAVQAKYGDYDPSVHKRGFL
AQEELLPKRVINLYQMTPEMWEERITAWYAEHRGRARDEAEMEYLKIAQDLEMYGVNYFAIRNKKGTELLLGVDALGLHI
YDPENRLTPKISFPWNEIRNISYSDKEFTIKPLDKKIDVFKFNSSKLRVNKLILQLCIGNHDLFMRRRKADSLEVQQMKA
QAREEKARKQMERQRLAREKQMREEAERTRDELERRLLQMKEEATMANEALMRSEETADLLAEKAQITEEEAKLLAQKAA
EAEQEMQRIKATAIRTEEEKRLMEQKVLEAEVLALKMAEESERRAKEADQLKQDLQEAREAERRAKQKLLEIATKPTYPP
MNPIPAPLPPDIPSFNLIGDSLSFDFKDTDMKRLSMEIEKEKVEYMEKSKHLQEQLNELKTEIEALKLKERETALDILHN
ENSDRGGSSKHNTIKKPQAQGRRPICI*

Gene Symbol:NF2
Accession:NM_001407059
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGAIASRMSFSSLKRKQPKTFTVRIVTMDAEMEFSCEMKWKGKDLFDLVCRTLGLRETWFFGLQYTIKDTVAWLKMDKK
VLDHDVSKEEPVTFHFLAKFYPENAEEELVQEITQHLFFLQVKKQILDEKIYCPPEASVLLASYAVQAKYGDYDPSVHKR
GFLAQEELLPKRVINLYQMTPEMWEERITAWYAEHRGRARDEAEMEYLKIAQDLEMYGVNYFAIRFTIKPLDKKIDVFKF
NSSKLRVNKLILQLCIGNHDLFMRRRKADSLEVQQMKAQAREEKARKQMERQRLAREKQMREEAERTRDELERRLLQMKE
EATMANEALMRSEETADLLAEKAQITEEEAKLLAQKAAEAEQEMQRIKATAIRTEEEKRLMEQKVLEAEVLALKMAEESE
RRAKEADQLKQDLQEAREAERRAKQKLLEIATKPTYPPMNPIPAPLPPDIPSFNLIGDSLSFDFKDTDMKRLSMEIEKEK
VEYMEKSKHLQEQLNELKTEIEALKLKERETALDILHNENSDRGGSSKHNTIKKPQAQGRRPICI*

Gene Symbol:NF2
Accession:NM_001407066
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGAIASRMSFSSLKRKQPKTFTVRIVTMDAEMEFSCEMKWKGKDLFDLVCRTLGLRETWFFGLQYTIKDTVAWLKMDKK
VLDHDVSKEEPVTFHFLAKFYPENAEEELVQEITQHLFFLQVKKQILDEKIYCPPEASVLLASYAVQAKYGDYDPSVHKR
GFLAQEELLPKRVINLYQMTPEMWEERITAWYAEHRGRARDEAEMEYLKIAQDLEMYGVNYFAIRNKKGTELLLGVDALG
LHIYDPENRLTPKISFPWNEIRNISYSDKEFTIKPLDKKIDVFKFNSSKLRVNKLILQLCIGNHDLFMRRRKADSLEVQQ
MKAQAREEKARKQMERQRLAREKQMREEAERTRDELERRLLQMKEEATMANEALMRSEETADLLAEKAQITEEEAKLLAQ
KAAEAEQEMQRIKATAIRTEEEKRLMEQKVLEAEVLALKMAEESERRAKEADQLKQDLQEAREAERRAKQKLLEIATKPT
YPPMNPIPAPLPPDIPSFNLIGDSLSFDFKDTDMKRLSMEIEKEKVEYMEKSKHLQEQLNELKTEIEALKLKERETALDI
LHNENSDRGGSSKHNTIKKPQAQGRRPICI*

Gene Symbol:NF2
Accession:NM_001407060
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGAIASRMSFSSLKRKQPKTFTVRIVTMDAEMEFSCEMKWKGKDLFDLVCRTLGLRETWFFGLQYTIKDTVAWLKMDKK
VLDHDVSKEEPVTFHFLAKFYPENAEEELVQEITQHLFFLQVKKQILDEKIYCPPEASVLLASYAVQAKYGDYDPSVHKR
GFLAQEELLPKRVINLYQMTPEMWEERITAWYAEHRGRARDEAEMEYLKIAQDLEMYGVNYFAIRNKKGTELLLGVDALG
LHIYDPENRLTPKISFPWNEIRNISYSDKEFTIKPLDKKIDVFKFNSSKLRVNKLILQLCIGNHDLFMRRRKADSLEVQQ
MKAQAREEKARKQMERQRLAREKQMREEAERTRDELERRLLQMKEEATMANEALMRSEETADLLAEKAQITEEEAKLLAQ
KAAEAEQEMQRIKATAIRTEEEKRLMEQKVLEAEVLALKMAEESERRAKEADQLKQDLQEAREAERRAKQKLLEIATKPT
YPPMNPIPAPLPPDIPSFNLIGDSLSFDFKDTDMKRLSMEIEKENSPCRAPSPEWPSLKSSSR*

Gene Symbol:NF2
Accession:NM_001407058
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGAIASRMSFSSLKRKQPKTFTVRIVTMDAEMEFSCEMKWKGKDLFDLVCRTLGLRETWFFGLQYTIKDTVAWLKMDKK
VKKQILDEKIYCPPEASVLLASYAVQAKYGDYDPSVHKRGFLAQEELLPKRVINLYQMTPEMWEERITAWYAEHRGRARD
EAEMEYLKIAQDLEMYGVNYFAIRNKKGTELLLGVDALGLHIYDPENRLTPKISFPWNEIRNISYSDKEFTIKPLDKKID
VFKFNSSKLRVNKLILQLCIGNHDLFMRRRKADSLEVQQMKAQAREEKARKQMERQRLAREKQMREEAERTRDELERRLL
QMKEEATMANEALMRSEETADLLAEKAQITEEEAKLLAQKAAEAEQEMQRIKATAIRTEEEKRLMEQKVLEAEVLALKMA
EESERRAKEADQLKQDLQEAREAERRAKQKLLEIATKPTYPPMNPIPAPLPPDIPSFNLIGDSLSFDFKDTDMKRLSMEI
EKEKVEYMEKSKHLQEQLNELKTEIEALKLKERETALDILHNENSDRGGSSKHNTIKKPQAQGRRPICI*

Gene Symbol:NF2
Accession:NM_001407063
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGAIASRMSFSSLKRKQPKTFTVRIVTMDAEMEFSCEVKKQILDEKIYCPPEASVLLASYAVQAKYGDYDPSVHKRGFL
AQEELLPKRVINLYQMTPEMWEERITAWYAEHRGRARDEAEMEYLKIAQDLEMYGVNYFAIRNKKGTELLLGVDALGLHI
YDPENRLTPKISFPWNEIRNISYSDKEFTIKPLDKKIDVFKFNSSKLRVNKLILQLCIGNHDLFMRRRKADSLEVQQMKA
QAREEKARKQMERQRLAREKQMREEAERTRDELERRLLQMKEEATMANEALMRSEETADLLAEKAQITEEEAKLLAQKAA
EAEQEMQRIKATAIRTEEEKRLMEQKVLEAEVLALKMAEESERRAKEADQLKQDLQEAREAERRAKQKLLEIATKPTYPP
MNPIPAPLPPDIPSFNLIGDSLSFDFKDTDMKRLSMEIEKEKVEYMEKSKHLQEQLNELKTEIEALKLKERETALDILHN
ENSDRGGSSKHNTIKKPQAQGRRPICI*

Gene Symbol:
Accession:
Location:EXON;NON-CODING

Gene Symbol:NF2
Accession:NR_176267
Location:EXON;NON-CODING

Gene Symbol:NF2
Accession:XM_017028809
Location:INTRON

Gene Symbol:NF2
Accession:XM_047441386
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:15684865   PMID:24728327   PMID:25741868   PMID:25931164   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000121642 CLINVAR
  RCV000564583 CLINVAR
  RCV000733228 CLINVAR
  RCV001085689 CLINVAR
  RCV003398733 CLINVAR
dbSNP (RS) rs372279458 CLINVAR
MedGen C0027672 CLINVAR
  C0027832 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene NF2 CLINVAR
OMIM 101000 CLINVAR
  607379 CLINVAR
SNOMED CT 699346009 CLINVAR
  92503002 CLINVAR