Canonical Allele Identifier: CA507953324

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45855581C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352323C>T , CM000681.2:g.45352323C>T	GRCh38
NC_000019.9:g.45855581C>T , CM000681.1:g.45855581C>T	GRCh37
NC_000019.8:g.50547421C>T	NCBI36
NG_007067.2:g.23265G>A , LRG_461:g.23265G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2076G>A	ENSP00000375808.4:p.Lys692=
ENST00000682414.1:c.2076G>A	ENSP00000507019.1:p.Lys692=
ENST00000682508.1:n.2105G>A
ENST00000684218.1:c.*1334G>A	ENSP00000507804.1:n.*1334G>A
ENST00000684264.1:n.1632G>A
ENST00000684407.1:c.1953G>A	ENSP00000507775.1:p.Lys651=
ENST00000684458.1:c.*562G>A	ENSP00000508260.1:n.*562G>A
ENST00000684468.1:n.1788G>A
ENST00000391945.10:c.2076G>A MANE Select	ENSP00000375809.4:p.Lys692=
ENST00000646507.1:n.2173G>A
ENST00000391941.6:c.2004G>A	ENSP00000375805.2:p.Lys668=
ENST00000391942.6:n.1247G>A
ENST00000391944.7:c.1842G>A	ENSP00000375808.3:p.Lys614=
ENST00000391945.8:c.2076G>A	ENSP00000375809.3:p.Lys692=
ENST00000588652.5:n.2164G>A
NM_000400.3:c.2076G>A , LRG_461t1:c.2076G>A	NP_000391.1:p.Lys692=
XM_011526611.1:c.1998G>A	XP_011524913.1:p.Lys666=
XM_011526611.2:c.1998G>A	XP_011524913.1:p.Lys666=
XM_017026467.1:c.1953G>A	XP_016881956.1:p.Lys651=
XR_001753633.2:n.2123G>A
XR_001753634.2:n.2059G>A
NM_000400.4:c.2076G>A MANE Select	NP_000391.1:p.Lys692=