RGD:126913850 Rat Genome Database

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Variant: RGD:126913850 -  Homo sapiens

RGD ID: 126913850
RS ID: rs2123224569
ClinVar ID: CV1038727
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ERCC2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 45,855,892
GRCh38 19 45,352,634
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000400.4:c.1918C>A
NC_000019.10:g.45352634G>T
NP_000391.1:p.Leu640Met
LRG_461:g.22954C>A
More... 		missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:ERCC2
Accession:NM_000400
Location:EXON
Amino Acid Prediction: L to M (nonsynonymous)
Amino Acid Position: 640
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLNVDGLLVYFPYDYIYPEQFSYMRELKRTLDAKGHGVLEMPSGTGKTVSLLALIMAYQRAYPLEVTKLIYCSRTVPEI
EKVIEELRKLLNFYEKQEGEKLPFLGLALSSRKNLCIHPEVTPLRFGKDVDGKCHSLTASYVRAQYQHDTSLPHCRFYEE
FDAHGREVPLPAGIYNLDDLKALGRRQGWCPYFLARYSILHANVVVYSYHYLLDPKIADLVSKELARKAVVVFDEAHNID
NVCIDSMSVNLTRRTLDRCQGNLETLQKTVLRIKETDEQRLRDEYRRLVEGLREASAARETDAHLANPVLPDEVLQEAVP
GSIRTAEHFLGFLRRLLEYVKWRLRVQHVVQESPPAFLSGLAQRVCIQRKPLRFCAERLRSLLHTLEITDLADFSPLTLL
ANFATLVSTYAKGFTIIIEPFDDRTPTIANPILHFSCMDASLAIKPVFERFQSVIITSGTLSPLDIYPKILDFHPVTMAT
FTMTLARVCLCPMIIGRGNDQVAISSKFETREDIAVIRNYGNLLLEMSAVVPDGIVAFFTSYQYMESTVASWYEQGILEN
IQRNKLLFIETQDGAETSVALEKYQEACENGRGAILLSVARGKVSEGIDFVHHYGRAVIMFGVPYVYTQSRILKARLEYM
RDQFQIRENDFLTFDAMRHAAQCVGRAIRGKTDYGLMVFADKRFARGDKRGKLPRWIQEHLTDANLNLTVDEGVQVAKYF
LRQMAQPFHREDQLGLSLLSLEQLESEETLKRIEQIAQQL*

Gene Symbol:ERCC2
Accession:XM_011526611
Location:EXON
Amino Acid Prediction: L to M (nonsynonymous)
Amino Acid Position: 614
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLNVDGLLVYFPYDYIYPEQFSYMRELKRTLDAKAYPLEVTKLIYCSRTVPEIEKVIEELRKLLNFYEKQEGEKLPFLG
LALSSRKNLCIHPEVTPLRFGKDVDGKCHSLTASYVRAQYQHDTSLPHCRFYEEFDAHGREVPLPAGIYNLDDLKALGRR
QGWCPYFLARYSILHANVVVYSYHYLLDPKIADLVSKELARKAVVVFDEAHNIDNVCIDSMSVNLTRRTLDRCQGNLETL
QKTVLRIKETDEQRLRDEYRRLVEGLREASAARETDAHLANPVLPDEVLQEAVPGSIRTAEHFLGFLRRLLEYVKWRLRV
QHVVQESPPAFLSGLAQRVCIQRKPLRFCAERLRSLLHTLEITDLADFSPLTLLANFATLVSTYAKGFTIIIEPFDDRTP
TIANPILHFSCMDASLAIKPVFERFQSVIITSGTLSPLDIYPKILDFHPVTMATFTMTLARVCLCPMIIGRGNDQVAISS
KFETREDIAVIRNYGNLLLEMSAVVPDGIVAFFTSYQYMESTVASWYEQGILENIQRNKLLFIETQDGAETSVALEKYQE
ACENGRGAILLSVARGKVSEGIDFVHHYGRAVIMFGVPYVYTQSRILKARLEYMRDQFQIRENDFLTFDAMRHAAQCVGR
AIRGKTDYGLMVFADKRFARGDKRGKLPRWIQEHLTDANLNLTVDEGVQVAKYFLRQMAQPFHREDQLGLSLLSLEQLES
EETLKRIEQIAQQL*

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

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

Gene Symbol:ERCC2
Accession:NM_001130867
Location:INTRON

Gene Symbol:ERCC2
Accession:XM_047438393
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001357749 CLINVAR
dbSNP (RS) rs2123224569 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ERCC2 CLINVAR
OMIM 126340 CLINVAR