RGD:40815846 Rat Genome Database

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Variant: RGD:40815846 -  Homo sapiens

RGD ID: 40815846
RS ID: rs139263710
ClinVar ID: CV970421
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ERCC2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 45,868,315
GRCh38 19 45,365,057
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_461:g.10531C>G
NG_007067.2:g.10531C>G
NC_000019.10:g.45365057G>C
NM_000400.3:c.462C>G
More... 		12/12/2021 missense variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ERCC2
Accession:XM_011526611
Location:EXON
Amino Acid Prediction: H to Q (nonsynonymous)
Amino Acid Position: 128
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLNVDGLLVYFPYDYIYPEQFSYMRELKRTLDAKAYPLEVTKLIYCSRTVPEIEKVIEELRKLLNFYEKQEGEKLPFLG
LALSSRKNLCIHPEVTPLRFGKDVDGKCHSLTASYVRAQYQHDTSLPQCRFYEEFDAHGREVPLPAGIYNLDDLKALGRR
QGWCPYFLARYSILHANVVVYSYHYLLDPKIADLVSKELARKAVVVFDEAHNIDNVCIDSMSVNLTRRTLDRCQGNLETL
QKTVLRIKETDEQRLRDEYRRLVEGLREASAARETDAHLANPVLPDEVLQEAVPGSIRTAEHFLGFLRRLLEYVKWRLRV
QHVVQESPPAFLSGLAQRVCIQRKPLRFCAERLRSLLHTLEITDLADFSPLTLLANFATLVSTYAKGFTIIIEPFDDRTP
TIANPILHFSCMDASLAIKPVFERFQSVIITSGTLSPLDIYPKILDFHPVTMATFTMTLARVCLCPMIIGRGNDQVAISS
KFETREDIAVIRNYGNLLLEMSAVVPDGIVAFFTSYQYMESTVASWYEQGILENIQRNKLLFIETQDGAETSVALEKYQE
ACENGRGAILLSVARGKVSEGIDFVHHYGRAVIMFGVPYVYTQSRILKARLEYLRDQFQIRENDFLTFDAMRHAAQCVGR
AIRGKTDYGLMVFADKRFARGDKRGKLPRWIQEHLTDANLNLTVDEGVQVAKYFLRQMAQPFHREDQLGLSLLSLEQLES
EETLKRIEQIAQQL*

Gene Symbol:ERCC2
Accession:XM_047438393
Location:EXON
Amino Acid Prediction: H to Q (nonsynonymous)
Amino Acid Position: 154
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLNVDGLLVYFPYDYIYPEQFSYMRELKRTLDAKGHGVLEMPSGTGKTVSLLALIMAYQRAYPLEVTKLIYCSRTVPEI
EKVIEELRKLLNFYEKQEGEKLPFLGLALSSRKNLCIHPEVTPLRFGKDVDGKCHSLTASYVRAQYQHDTSLPQCRFYEE
FDAHGREVPLPAGIYNLDDLKALGRRQGWCPYFLARYSILHANVVVYSYHYLLDPKIADLVSKELARKAVVVFDEAHNID
NVCIDSMSVNLTRRTLDRCQGNLETLQKTVLRIKETDEQRLRDEYRRLVEGLREASAARETDAHLANPVLPDEVLQEAVP
GSIRTAEHFLGFLRRLLEYVKWRLRVQHVVQESPPAFLSGLAQRVCIQRKPLRFCAERLRSLLHTLEITDLADFSPLTLL
ANFATLVSTYAKGFTIIIEPFDDRTPTIANPILHFSCMDASLAIKPVFERFQSVIITSGTLSPLDIYPKILDFHPVTMAT
FTMTLARVCLCPML*

Gene Symbol:ERCC2
Accession:NM_000400
Location:EXON
Amino Acid Prediction: H to Q (nonsynonymous)
Amino Acid Position: 154
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLNVDGLLVYFPYDYIYPEQFSYMRELKRTLDAKGHGVLEMPSGTGKTVSLLALIMAYQRAYPLEVTKLIYCSRTVPEI
EKVIEELRKLLNFYEKQEGEKLPFLGLALSSRKNLCIHPEVTPLRFGKDVDGKCHSLTASYVRAQYQHDTSLPQCRFYEE
FDAHGREVPLPAGIYNLDDLKALGRRQGWCPYFLARYSILHANVVVYSYHYLLDPKIADLVSKELARKAVVVFDEAHNID
NVCIDSMSVNLTRRTLDRCQGNLETLQKTVLRIKETDEQRLRDEYRRLVEGLREASAARETDAHLANPVLPDEVLQEAVP
GSIRTAEHFLGFLRRLLEYVKWRLRVQHVVQESPPAFLSGLAQRVCIQRKPLRFCAERLRSLLHTLEITDLADFSPLTLL
ANFATLVSTYAKGFTIIIEPFDDRTPTIANPILHFSCMDASLAIKPVFERFQSVIITSGTLSPLDIYPKILDFHPVTMAT
FTMTLARVCLCPMIIGRGNDQVAISSKFETREDIAVIRNYGNLLLEMSAVVPDGIVAFFTSYQYMESTVASWYEQGILEN
IQRNKLLFIETQDGAETSVALEKYQEACENGRGAILLSVARGKVSEGIDFVHHYGRAVIMFGVPYVYTQSRILKARLEYL
RDQFQIRENDFLTFDAMRHAAQCVGRAIRGKTDYGLMVFADKRFARGDKRGKLPRWIQEHLTDANLNLTVDEGVQVAKYF
LRQMAQPFHREDQLGLSLLSLEQLESEETLKRIEQIAQQL*

Gene Symbol:ERCC2
Accession:NM_001130867
Location:EXON
Amino Acid Prediction: H to Q (nonsynonymous)
Amino Acid Position: 130
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRELKRTLDAKGHGVLEMPSGTGKTVSLLALIMAYQRAYPLEVTKLIYCSRTVPEIEKVIEELRKLLNFYEKQEGEKLPF
LGLALSSRKNLCIHPEVTPLRFGKDVDGKCHSLTASYVRAQYQHDTSLPQCRFYEEFDAHGREVPLPAGIYNLDDLKALG
RRQGWCPYFLARYSILHANVVVYSYHYLLDPKIADLVSKELARKAVVVFDEAHNIDNVCIDSMSVNLTRRTLDRCQGNLE
TLQKTVLRIKETDEQRLRDEYRRLVEGLREASAARETDAHLANPVLPDEVLQEAVPGSIRTAEHFLGFLRRLLEYVKWRL
RVQHVVQESPPAFLSGLAQRVCIQRKPLRFCAERLRSLLHTLEITDLADFSPLTLLANFATLVSTYAKGQAQHCGSSRNQ
KRSHP*

Gene Symbol:ERCC2
Accession:XR_007066680
Location:EXON;NON-CODING

Gene Symbol:ERCC2
Accession:XR_001753633
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001261931 CLINVAR
  RCV001880026 CLINVAR
dbSNP (RS) rs139263710 CLINVAR
MedGen C1853102 CLINVAR
  CN517202 CLINVAR
NCBI Gene ERCC2 CLINVAR
OMIM 126340 CLINVAR
  610756 CLINVAR