Canonical Allele Identifier: CA507821578

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45860555C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45357297C>G , CM000681.2:g.45357297C>G	GRCh38
NC_000019.9:g.45860555C>G , CM000681.1:g.45860555C>G	GRCh37
NC_000019.8:g.50552395C>G	NCBI36
NG_007067.2:g.18291G>C , LRG_461:g.18291G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1452G>C	ENSP00000375808.4:p.Thr484=
ENST00000682414.1:c.1452G>C	ENSP00000507019.1:p.Thr484=
ENST00000682508.1:n.1481G>C
ENST00000684218.1:c.*710G>C	ENSP00000507804.1:n.*710G>C
ENST00000684264.1:n.1008G>C
ENST00000684407.1:c.1329G>C	ENSP00000507775.1:p.Thr443=
ENST00000684458.1:c.*2G>C	ENSP00000508260.1:n.*2G>C
ENST00000684468.1:n.1228G>C
ENST00000391945.10:c.1452G>C MANE Select	ENSP00000375809.4:p.Thr484=
ENST00000587376.6:c.575G>C
ENST00000646507.1:n.1549G>C
ENST00000391941.6:c.1380G>C	ENSP00000375805.2:p.Thr460=
ENST00000391942.6:n.623G>C
ENST00000391944.7:c.1218G>C	ENSP00000375808.3:p.Thr406=
ENST00000391945.8:c.1452G>C	ENSP00000375809.3:p.Thr484=
ENST00000587376.5:c.575G>C
ENST00000588652.5:n.1540G>C
NM_000400.3:c.1452G>C , LRG_461t1:c.1452G>C	NP_000391.1:p.Thr484=
XM_011526611.1:c.1374G>C	XP_011524913.1:p.Thr458=
XR_935763.1:n.1499G>C
XM_011526611.2:c.1374G>C	XP_011524913.1:p.Thr458=
XM_017026467.1:c.1329G>C	XP_016881956.1:p.Thr443=
XR_001753633.2:n.1499G>C
XR_001753634.2:n.1499G>C
NM_000400.4:c.1452G>C MANE Select	NP_000391.1:p.Thr484=