Canonical Allele Identifier: CA406367016

Gene: ERCC2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1450A>T	ENSP00000375808.4:p.Thr484Ser
ENST00000682414.1:c.1450A>T	ENSP00000507019.1:p.Thr484Ser
ENST00000682508.1:n.1479A>T
ENST00000684218.1:c.*708A>T	ENSP00000507804.1:n.*708A>T
ENST00000684264.1:n.1006A>T
ENST00000684407.1:c.1327A>T	ENSP00000507775.1:p.Thr443Ser
ENST00000684458.1:c.1380A>T	ENSP00000508260.1:p.Ter460Cys
ENST00000684468.1:n.1226A>T
ENST00000391945.10:c.1450A>T MANE Select	ENSP00000375809.4:p.Thr484Ser
ENST00000587376.6:c.573A>T
ENST00000646507.1:n.1547A>T
ENST00000391941.6:c.1378A>T	ENSP00000375805.2:p.Thr460Ser
ENST00000391942.6:n.621A>T
ENST00000391944.7:c.1216A>T	ENSP00000375808.3:p.Thr406Ser
ENST00000391945.8:c.1450A>T	ENSP00000375809.3:p.Thr484Ser
ENST00000587376.5:c.573A>T
ENST00000588652.5:n.1538A>T
NM_000400.3:c.1450A>T , LRG_461t1:c.1450A>T	NP_000391.1:p.Thr484Ser
XM_011526611.1:c.1372A>T	XP_011524913.1:p.Thr458Ser
XR_935763.1:n.1497A>T
XM_011526611.2:c.1372A>T	XP_011524913.1:p.Thr458Ser
XM_017026467.1:c.1327A>T	XP_016881956.1:p.Thr443Ser
XR_001753633.2:n.1497A>T
XR_001753634.2:n.1497A>T
NM_000400.4:c.1450A>T MANE Select	NP_000391.1:p.Thr484Ser