Canonical Allele Identifier: CA406363011

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45855808T>C (hg19) ; chr19:g.45352550T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352550T>C , CM000681.2:g.45352550T>C	GRCh38
NC_000019.9:g.45855808T>C , CM000681.1:g.45855808T>C	GRCh37
NC_000019.8:g.50547648T>C	NCBI36
NG_007067.2:g.23038A>G , LRG_461:g.23038A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2002A>G	ENSP00000375808.4:p.Ile668Val
ENST00000682414.1:c.2002A>G	ENSP00000507019.1:p.Ile668Val
ENST00000682508.1:n.2031A>G
ENST00000684218.1:c.*1260A>G	ENSP00000507804.1:n.*1260A>G
ENST00000684264.1:n.1558A>G
ENST00000684407.1:c.1879A>G	ENSP00000507775.1:p.Ile627Val
ENST00000684458.1:c.*488A>G	ENSP00000508260.1:n.*488A>G
ENST00000684468.1:n.1714A>G
ENST00000391945.10:c.2002A>G MANE Select	ENSP00000375809.4:p.Ile668Val
ENST00000646507.1:n.2099A>G
ENST00000391941.6:c.1930A>G	ENSP00000375805.2:p.Ile644Val
ENST00000391942.6:n.1173A>G
ENST00000391944.7:c.1768A>G	ENSP00000375808.3:p.Ile590Val
ENST00000391945.8:c.2002A>G	ENSP00000375809.3:p.Ile668Val
ENST00000588652.5:n.2090A>G
NM_000400.3:c.2002A>G , LRG_461t1:c.2002A>G	NP_000391.1:p.Ile668Val
XM_011526611.1:c.1924A>G	XP_011524913.1:p.Ile642Val
XM_011526611.2:c.1924A>G	XP_011524913.1:p.Ile642Val
XM_017026467.1:c.1879A>G	XP_016881956.1:p.Ile627Val
XR_001753633.2:n.2049A>G
XR_001753634.2:n.1985A>G
NM_000400.4:c.2002A>G MANE Select	NP_000391.1:p.Ile668Val