Canonical Allele Identifier: CA507953305

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45855551T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352293T>A , CM000681.2:g.45352293T>A	GRCh38
NC_000019.9:g.45855551T>A , CM000681.1:g.45855551T>A	GRCh37
NC_000019.8:g.50547391T>A	NCBI36
NG_007067.2:g.23295A>T , LRG_461:g.23295A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2106A>T	ENSP00000375808.4:p.Thr702=
ENST00000682414.1:c.2106A>T	ENSP00000507019.1:p.Thr702=
ENST00000682508.1:n.2135A>T
ENST00000684218.1:c.*1364A>T	ENSP00000507804.1:n.*1364A>T
ENST00000684264.1:n.1662A>T
ENST00000684407.1:c.1983A>T	ENSP00000507775.1:p.Thr661=
ENST00000684458.1:c.*592A>T	ENSP00000508260.1:n.*592A>T
ENST00000684468.1:n.1818A>T
ENST00000391945.10:c.2106A>T MANE Select	ENSP00000375809.4:p.Thr702=
ENST00000646507.1:n.2203A>T
ENST00000391941.6:c.2034A>T	ENSP00000375805.2:p.Thr678=
ENST00000391942.6:n.1277A>T
ENST00000391944.7:c.1872A>T	ENSP00000375808.3:p.Thr624=
ENST00000391945.8:c.2106A>T	ENSP00000375809.3:p.Thr702=
ENST00000588652.5:n.2194A>T
NM_000400.3:c.2106A>T , LRG_461t1:c.2106A>T	NP_000391.1:p.Thr702=
XM_011526611.1:c.2028A>T	XP_011524913.1:p.Thr676=
XM_011526611.2:c.2028A>T	XP_011524913.1:p.Thr676=
XM_017026467.1:c.1983A>T	XP_016881956.1:p.Thr661=
XR_001753633.2:n.2153A>T
XR_001753634.2:n.2089A>T
NM_000400.4:c.2106A>T MANE Select	NP_000391.1:p.Thr702=