Canonical Allele Identifier: CA406362711

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352513-G-A
• COSMIC: COSM6350258
• MyVariant Identifiers: chr19:g.45855771G>A (hg19) ; chr19:g.45352513G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352513G>A , CM000681.2:g.45352513G>A	GRCh38
NC_000019.9:g.45855771G>A , CM000681.1:g.45855771G>A	GRCh37
NC_000019.8:g.50547611G>A	NCBI36
NG_007067.2:g.23075C>T , LRG_461:g.23075C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2039C>T	ENSP00000375808.4:p.Ala680Val
ENST00000682414.1:c.2039C>T	ENSP00000507019.1:p.Ala680Val
ENST00000682508.1:n.2068C>T
ENST00000684218.1:c.*1297C>T	ENSP00000507804.1:n.*1297C>T
ENST00000684264.1:n.1595C>T
ENST00000684407.1:c.1916C>T	ENSP00000507775.1:p.Ala639Val
ENST00000684458.1:c.*525C>T	ENSP00000508260.1:n.*525C>T
ENST00000684468.1:n.1751C>T
ENST00000391945.10:c.2039C>T MANE Select	ENSP00000375809.4:p.Ala680Val
ENST00000646507.1:n.2136C>T
ENST00000391941.6:c.1967C>T	ENSP00000375805.2:p.Ala656Val
ENST00000391942.6:n.1210C>T
ENST00000391944.7:c.1805C>T	ENSP00000375808.3:p.Ala602Val
ENST00000391945.8:c.2039C>T	ENSP00000375809.3:p.Ala680Val
ENST00000588652.5:n.2127C>T
NM_000400.3:c.2039C>T , LRG_461t1:c.2039C>T	NP_000391.1:p.Ala680Val
XM_011526611.1:c.1961C>T	XP_011524913.1:p.Ala654Val
XM_011526611.2:c.1961C>T	XP_011524913.1:p.Ala654Val
XM_017026467.1:c.1916C>T	XP_016881956.1:p.Ala639Val
XR_001753633.2:n.2086C>T
XR_001753634.2:n.2022C>T
NM_000400.4:c.2039C>T MANE Select	NP_000391.1:p.Ala680Val