Canonical Allele Identifier: CA507953313

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45855566G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352308G>T , CM000681.2:g.45352308G>T	GRCh38
NC_000019.9:g.45855566G>T , CM000681.1:g.45855566G>T	GRCh37
NC_000019.8:g.50547406G>T	NCBI36
NG_007067.2:g.23280C>A , LRG_461:g.23280C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2091C>A	ENSP00000375808.4:p.Ile697=
ENST00000682414.1:c.2091C>A	ENSP00000507019.1:p.Ile697=
ENST00000682508.1:n.2120C>A
ENST00000684218.1:c.*1349C>A	ENSP00000507804.1:n.*1349C>A
ENST00000684264.1:n.1647C>A
ENST00000684407.1:c.1968C>A	ENSP00000507775.1:p.Ile656=
ENST00000684458.1:c.*577C>A	ENSP00000508260.1:n.*577C>A
ENST00000684468.1:n.1803C>A
ENST00000391945.10:c.2091C>A MANE Select	ENSP00000375809.4:p.Ile697=
ENST00000646507.1:n.2188C>A
ENST00000391941.6:c.2019C>A	ENSP00000375805.2:p.Ile673=
ENST00000391942.6:n.1262C>A
ENST00000391944.7:c.1857C>A	ENSP00000375808.3:p.Ile619=
ENST00000391945.8:c.2091C>A	ENSP00000375809.3:p.Ile697=
ENST00000588652.5:n.2179C>A
NM_000400.3:c.2091C>A , LRG_461t1:c.2091C>A	NP_000391.1:p.Ile697=
XM_011526611.1:c.2013C>A	XP_011524913.1:p.Ile671=
XM_011526611.2:c.2013C>A	XP_011524913.1:p.Ile671=
XM_017026467.1:c.1968C>A	XP_016881956.1:p.Ile656=
XR_001753633.2:n.2138C>A
XR_001753634.2:n.2074C>A
NM_000400.4:c.2091C>A MANE Select	NP_000391.1:p.Ile697=