Canonical Allele Identifier: CA633349785
Gene: ERCC2 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.45370684G>T
GRCh37 chr19:g.45873942G>T
gnomAD v2:
19:45873942 G / T
gnomAD v3:
19:45370684 G / T
gnomAD v4:
chr19-45370684-G-T
Joint Max Group AF 0.00016884 (AFR)
Genomes Max Group AF 0.00020432 (AFR)
Exomes Max Group AF 0.00001935 (AFR)
dbSNP:
3810366
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Genomic Alleles

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

Transcript Alleles

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