Canonical Allele Identifier: CA406362111

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2479600
• ClinVar RCV Id: RCV003204376
• dbSNP Id: rs775212976
• gnomAD v2: 19-45855523-C-T
• gnomAD v3: 19-45352265-C-T
• gnomAD v4: 19-45352265-C-T
• COSMIC: COSM4681580
• MyVariant Identifiers: chr19:g.45855523C>T (hg19) ; chr19:g.45352265C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352265C>T , CM000681.2:g.45352265C>T	GRCh38
NC_000019.9:g.45855523C>T , CM000681.1:g.45855523C>T	GRCh37
NC_000019.8:g.50547363C>T	NCBI36
NG_007067.2:g.23323G>A , LRG_461:g.23323G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2134G>A	ENSP00000375808.4:p.Glu712Lys
ENST00000682414.1:c.2134G>A	ENSP00000507019.1:p.Glu712Lys
ENST00000682508.1:n.2163G>A
ENST00000684218.1:c.*1392G>A	ENSP00000507804.1:n.*1392G>A
ENST00000684264.1:n.1690G>A
ENST00000684407.1:c.2011G>A	ENSP00000507775.1:p.Glu671Lys
ENST00000684458.1:c.*620G>A	ENSP00000508260.1:n.*620G>A
ENST00000684468.1:n.1846G>A
ENST00000391945.10:c.2134G>A MANE Select	ENSP00000375809.4:p.Glu712Lys
ENST00000646507.1:n.2231G>A
ENST00000391941.6:c.2062G>A	ENSP00000375805.2:p.Glu688Lys
ENST00000391942.6:n.1305G>A
ENST00000391944.7:c.1900G>A	ENSP00000375808.3:p.Glu634Lys
ENST00000391945.8:c.2134G>A	ENSP00000375809.3:p.Glu712Lys
ENST00000588652.5:n.2222G>A
NM_000400.3:c.2134G>A , LRG_461t1:c.2134G>A	NP_000391.1:p.Glu712Lys
XM_011526611.1:c.2056G>A	XP_011524913.1:p.Glu686Lys
XM_011526611.2:c.2056G>A	XP_011524913.1:p.Glu686Lys
XM_017026467.1:c.2011G>A	XP_016881956.1:p.Glu671Lys
XR_001753633.2:n.2181G>A
XR_001753634.2:n.2117G>A
NM_000400.4:c.2134G>A MANE Select	NP_000391.1:p.Glu712Lys