Canonical Allele Identifier: CA126885

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 16785
• ClinVar RCV Id: RCV000018275 ; RCV002482884 ; RCV002513098 ; RCV003153304 ; RCV003460483
• dbSNP Id: rs121913021
• ExAC: 19:45855838 G / A
• gnomAD v2: 19-45855838-G-A
• gnomAD v3: 19-45352580-G-A
• gnomAD v4: 19-45352580-G-A
• COSMIC: COSM5796092
• MyVariant Identifiers: chr19:g.45855838G>A (hg19) ; chr19:g.45352580G>A (hg38)
• PubMed: PMID:8571952 ; PMID:11242112

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352580G>A , CM000681.2:g.45352580G>A	GRCh38
NC_000019.9:g.45855838G>A , CM000681.1:g.45855838G>A	GRCh37
NC_000019.8:g.50547678G>A	NCBI36
NG_007067.2:g.23008C>T , LRG_461:g.23008C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1972C>T	ENSP00000375808.4:p.Arg658Cys
ENST00000682414.1:c.1972C>T	ENSP00000507019.1:p.Arg658Cys
ENST00000682508.1:n.2001C>T
ENST00000684218.1:c.*1230C>T	ENSP00000507804.1:n.*1230C>T
ENST00000684264.1:n.1528C>T
ENST00000684407.1:c.1849C>T	ENSP00000507775.1:p.Arg617Cys
ENST00000684458.1:c.*458C>T	ENSP00000508260.1:n.*458C>T
ENST00000684468.1:n.1684C>T
ENST00000391945.10:c.1972C>T MANE Select	ENSP00000375809.4:p.Arg658Cys
ENST00000646507.1:n.2069C>T
ENST00000391941.6:c.1900C>T	ENSP00000375805.2:p.Arg634Cys
ENST00000391942.6:n.1143C>T
ENST00000391944.7:c.1738C>T	ENSP00000375808.3:p.Arg580Cys
ENST00000391945.8:c.1972C>T	ENSP00000375809.3:p.Arg658Cys
ENST00000588652.5:n.2060C>T
NM_000400.3:c.1972C>T , LRG_461t1:c.1972C>T	NP_000391.1:p.Arg658Cys
XM_011526611.1:c.1894C>T	XP_011524913.1:p.Arg632Cys
XM_011526611.2:c.1894C>T	XP_011524913.1:p.Arg632Cys
XM_017026467.1:c.1849C>T	XP_016881956.1:p.Arg617Cys
XR_001753633.2:n.2019C>T
XR_001753634.2:n.1955C>T
NM_000400.4:c.1972C>T MANE Select	NP_000391.1:p.Arg658Cys