Canonical Allele Identifier: CA406367045

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45860563T>G (hg19) ; chr19:g.45357305T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45357305T>G , CM000681.2:g.45357305T>G	GRCh38
NC_000019.9:g.45860563T>G , CM000681.1:g.45860563T>G	GRCh37
NC_000019.8:g.50552403T>G	NCBI36
NG_007067.2:g.18283A>C , LRG_461:g.18283A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1444A>C	ENSP00000375808.4:p.Thr482Pro
ENST00000682414.1:c.1444A>C	ENSP00000507019.1:p.Thr482Pro
ENST00000682508.1:n.1473A>C
ENST00000684218.1:c.*702A>C	ENSP00000507804.1:n.*702A>C
ENST00000684264.1:n.1000A>C
ENST00000684407.1:c.1321A>C	ENSP00000507775.1:p.Thr441Pro
ENST00000684458.1:c.1374A>C	ENSP00000508260.1:p.Ser458=
ENST00000684468.1:n.1220A>C
ENST00000391945.10:c.1444A>C MANE Select	ENSP00000375809.4:p.Thr482Pro
ENST00000587376.6:c.567A>C
ENST00000646507.1:n.1541A>C
ENST00000391941.6:c.1372A>C	ENSP00000375805.2:p.Thr458Pro
ENST00000391942.6:n.615A>C
ENST00000391944.7:c.1210A>C	ENSP00000375808.3:p.Thr404Pro
ENST00000391945.8:c.1444A>C	ENSP00000375809.3:p.Thr482Pro
ENST00000587376.5:c.567A>C
ENST00000588652.5:n.1532A>C
NM_000400.3:c.1444A>C , LRG_461t1:c.1444A>C	NP_000391.1:p.Thr482Pro
XM_011526611.1:c.1366A>C	XP_011524913.1:p.Thr456Pro
XR_935763.1:n.1491A>C
XM_011526611.2:c.1366A>C	XP_011524913.1:p.Thr456Pro
XM_017026467.1:c.1321A>C	XP_016881956.1:p.Thr441Pro
XR_001753633.2:n.1491A>C
XR_001753634.2:n.1491A>C
NM_000400.4:c.1444A>C MANE Select	NP_000391.1:p.Thr482Pro