Canonical Allele Identifier: CA9512956

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1499293
• ClinVar RCV Id: RCV002010563 ; RCV003471249
• dbSNP Id: rs762141272
• ExAC: 19:45855837 C / T
• gnomAD v2: 19-45855837-C-T
• gnomAD v3: 19-45352579-C-T
• gnomAD v4: 19-45352579-C-T
• MyVariant Identifiers: chr19:g.45855837C>T (hg19) ; chr19:g.45352579C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352579C>T , CM000681.2:g.45352579C>T	GRCh38
NC_000019.9:g.45855837C>T , CM000681.1:g.45855837C>T	GRCh37
NC_000019.8:g.50547677C>T	NCBI36
NG_007067.2:g.23009G>A , LRG_461:g.23009G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1973G>A	ENSP00000375808.4:p.Arg658His
ENST00000682414.1:c.1973G>A	ENSP00000507019.1:p.Arg658His
ENST00000682508.1:n.2002G>A
ENST00000684218.1:c.*1231G>A	ENSP00000507804.1:n.*1231G>A
ENST00000684264.1:n.1529G>A
ENST00000684407.1:c.1850G>A	ENSP00000507775.1:p.Arg617His
ENST00000684458.1:c.*459G>A	ENSP00000508260.1:n.*459G>A
ENST00000684468.1:n.1685G>A
ENST00000391945.10:c.1973G>A MANE Select	ENSP00000375809.4:p.Arg658His
ENST00000646507.1:n.2070G>A
ENST00000391941.6:c.1901G>A	ENSP00000375805.2:p.Arg634His
ENST00000391942.6:n.1144G>A
ENST00000391944.7:c.1739G>A	ENSP00000375808.3:p.Arg580His
ENST00000391945.8:c.1973G>A	ENSP00000375809.3:p.Arg658His
ENST00000588652.5:n.2061G>A
NM_000400.3:c.1973G>A , LRG_461t1:c.1973G>A	NP_000391.1:p.Arg658His
XM_011526611.1:c.1895G>A	XP_011524913.1:p.Arg632His
XM_011526611.2:c.1895G>A	XP_011524913.1:p.Arg632His
XM_017026467.1:c.1850G>A	XP_016881956.1:p.Arg617His
XR_001753633.2:n.2020G>A
XR_001753634.2:n.1956G>A
NM_000400.4:c.1973G>A MANE Select	NP_000391.1:p.Arg658His