Canonical Allele Identifier: CA507953294

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45855533C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352275C>A , CM000681.2:g.45352275C>A	GRCh38
NC_000019.9:g.45855533C>A , CM000681.1:g.45855533C>A	GRCh37
NC_000019.8:g.50547373C>A	NCBI36
NG_007067.2:g.23313G>T , LRG_461:g.23313G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2124G>T	ENSP00000375808.4:p.Leu708=
ENST00000682414.1:c.2124G>T	ENSP00000507019.1:p.Leu708=
ENST00000682508.1:n.2153G>T
ENST00000684218.1:c.*1382G>T	ENSP00000507804.1:n.*1382G>T
ENST00000684264.1:n.1680G>T
ENST00000684407.1:c.2001G>T	ENSP00000507775.1:p.Leu667=
ENST00000684458.1:c.*610G>T	ENSP00000508260.1:n.*610G>T
ENST00000684468.1:n.1836G>T
ENST00000391945.10:c.2124G>T MANE Select	ENSP00000375809.4:p.Leu708=
ENST00000646507.1:n.2221G>T
ENST00000391941.6:c.2052G>T	ENSP00000375805.2:p.Leu684=
ENST00000391942.6:n.1295G>T
ENST00000391944.7:c.1890G>T	ENSP00000375808.3:p.Leu630=
ENST00000391945.8:c.2124G>T	ENSP00000375809.3:p.Leu708=
ENST00000588652.5:n.2212G>T
NM_000400.3:c.2124G>T , LRG_461t1:c.2124G>T	NP_000391.1:p.Leu708=
XM_011526611.1:c.2046G>T	XP_011524913.1:p.Leu682=
XM_011526611.2:c.2046G>T	XP_011524913.1:p.Leu682=
XM_017026467.1:c.2001G>T	XP_016881956.1:p.Leu667=
XR_001753633.2:n.2171G>T
XR_001753634.2:n.2107G>T
NM_000400.4:c.2124G>T MANE Select	NP_000391.1:p.Leu708=