Canonical Allele Identifier: CA406367020

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45860557T>G (hg19) ; chr19:g.45357299T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45357299T>G , CM000681.2:g.45357299T>G	GRCh38
NC_000019.9:g.45860557T>G , CM000681.1:g.45860557T>G	GRCh37
NC_000019.8:g.50552397T>G	NCBI36
NG_007067.2:g.18289A>C , LRG_461:g.18289A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1450A>C	ENSP00000375808.4:p.Thr484Pro
ENST00000682414.1:c.1450A>C	ENSP00000507019.1:p.Thr484Pro
ENST00000682508.1:n.1479A>C
ENST00000684218.1:c.*708A>C	ENSP00000507804.1:n.*708A>C
ENST00000684264.1:n.1006A>C
ENST00000684407.1:c.1327A>C	ENSP00000507775.1:p.Thr443Pro
ENST00000684458.1:c.1380A>C	ENSP00000508260.1:p.Ter460Cys
ENST00000684468.1:n.1226A>C
ENST00000391945.10:c.1450A>C MANE Select	ENSP00000375809.4:p.Thr484Pro
ENST00000587376.6:c.573A>C
ENST00000646507.1:n.1547A>C
ENST00000391941.6:c.1378A>C	ENSP00000375805.2:p.Thr460Pro
ENST00000391942.6:n.621A>C
ENST00000391944.7:c.1216A>C	ENSP00000375808.3:p.Thr406Pro
ENST00000391945.8:c.1450A>C	ENSP00000375809.3:p.Thr484Pro
ENST00000587376.5:c.573A>C
ENST00000588652.5:n.1538A>C
NM_000400.3:c.1450A>C , LRG_461t1:c.1450A>C	NP_000391.1:p.Thr484Pro
XM_011526611.1:c.1372A>C	XP_011524913.1:p.Thr458Pro
XR_935763.1:n.1497A>C
XM_011526611.2:c.1372A>C	XP_011524913.1:p.Thr458Pro
XM_017026467.1:c.1327A>C	XP_016881956.1:p.Thr443Pro
XR_001753633.2:n.1497A>C
XR_001753634.2:n.1497A>C
NM_000400.4:c.1450A>C MANE Select	NP_000391.1:p.Thr484Pro