Canonical Allele Identifier: CA14677027
Gene: ERCC2 HGNC NCBI
COSMIC:
COSN6668964 (not active)
MyVariant.info:
GRCh38 chr19:g.45370684G>C
GRCh37 chr19:g.45873942G>C
gnomAD v2:
19:45873942 G / C
gnomAD v3:
19:45370684 G / C
gnomAD v4:
chr19-45370684-G-C
Joint Max Group AF 0.83989744 (AFR)
Genomes Max Group AF 0.83784026 (AFR)
Exomes Max Group AF 0.83677019 (AFR)
ClinVar RCV:
RCV001597413
ClinVar Variation:
1221224
dbSNP:
3810366
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45370684G>C , CM000681.2:g.45370684G>C GRCh38
NC_000019.9:g.45873942G>C , CM000681.1:g.45873942G>C GRCh37
NC_000019.8:g.50565782G>C NCBI36
NG_007067.2:g.4904C>G , LRG_461:g.4904C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000391941.6:c.-519C>G ENSP00000375805.2:n.-519C>G
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