Canonical Allele Identifier: CA406367310

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45860629T>G (hg19) ; chr19:g.45357371T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45357371T>G , CM000681.2:g.45357371T>G	GRCh38
NC_000019.9:g.45860629T>G , CM000681.1:g.45860629T>G	GRCh37
NC_000019.8:g.50552469T>G	NCBI36
NG_007067.2:g.18217A>C , LRG_461:g.18217A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1378A>C	ENSP00000375808.4:p.Thr460Pro
ENST00000682414.1:c.1378A>C	ENSP00000507019.1:p.Thr460Pro
ENST00000682508.1:n.1407A>C
ENST00000684218.1:c.*636A>C	ENSP00000507804.1:n.*636A>C
ENST00000684264.1:n.934A>C
ENST00000684407.1:c.1255A>C	ENSP00000507775.1:p.Thr419Pro
ENST00000684458.1:c.1308A>C	ENSP00000508260.1:p.Gly436=
ENST00000684468.1:n.1154A>C
ENST00000391945.10:c.1378A>C MANE Select	ENSP00000375809.4:p.Thr460Pro
ENST00000587376.6:c.501A>C
ENST00000646507.1:n.1475A>C
ENST00000391941.6:c.1306A>C	ENSP00000375805.2:p.Thr436Pro
ENST00000391942.6:n.549A>C
ENST00000391944.7:c.1144A>C	ENSP00000375808.3:p.Thr382Pro
ENST00000391945.8:c.1378A>C	ENSP00000375809.3:p.Thr460Pro
ENST00000587376.5:c.501A>C
ENST00000588652.5:n.1466A>C
NM_000400.3:c.1378A>C , LRG_461t1:c.1378A>C	NP_000391.1:p.Thr460Pro
XM_011526611.1:c.1300A>C	XP_011524913.1:p.Thr434Pro
XR_935763.1:n.1425A>C
XM_011526611.2:c.1300A>C	XP_011524913.1:p.Thr434Pro
XM_017026467.1:c.1255A>C	XP_016881956.1:p.Thr419Pro
XR_001753633.2:n.1425A>C
XR_001753634.2:n.1425A>C
NM_000400.4:c.1378A>C MANE Select	NP_000391.1:p.Thr460Pro