Canonical Allele Identifier: CA406373844

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45867369T>A (hg19) ; chr19:g.45364111T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364111T>A , CM000681.2:g.45364111T>A	GRCh38
NC_000019.9:g.45867369T>A , CM000681.1:g.45867369T>A	GRCh37
NC_000019.8:g.50559209T>A	NCBI36
NG_007067.2:g.11477A>T , LRG_461:g.11477A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.824A>T	ENSP00000375808.4:p.Glu275Val
ENST00000682414.1:c.824A>T	ENSP00000507019.1:p.Glu275Val
ENST00000682508.1:n.853A>T
ENST00000684218.1:c.*82A>T	ENSP00000507804.1:n.*82A>T
ENST00000684407.1:c.701A>T	ENSP00000507775.1:p.Glu234Val
ENST00000684458.1:c.824A>T	ENSP00000508260.1:p.Glu275Val
ENST00000391945.10:c.824A>T MANE Select	ENSP00000375809.4:p.Glu275Val
ENST00000586131.6:c.752A>T	ENSP00000464887.1:p.Glu251Val
ENST00000646507.1:n.921A>T
ENST00000391941.6:c.752A>T	ENSP00000375805.2:p.Glu251Val
ENST00000391944.7:c.590A>T	ENSP00000375808.3:p.Glu197Val
ENST00000391945.8:c.824A>T	ENSP00000375809.3:p.Glu275Val
ENST00000485403.6:c.752A>T	ENSP00000431229.2:p.Glu251Val
ENST00000586131.5:c.752A>T	ENSP00000464887.1:p.Glu251Val
ENST00000586737.5:n.461A>T
ENST00000591309.5:c.*82A>T	ENSP00000465207.1:n.*82A>T
NM_000400.3:c.824A>T , LRG_461t1:c.824A>T	NP_000391.1:p.Glu275Val
NM_001130867.1:c.752A>T	NP_001124339.1:p.Glu251Val
XM_011526611.1:c.746A>T	XP_011524913.1:p.Glu249Val
XR_935763.1:n.871A>T
XM_011526611.2:c.746A>T	XP_011524913.1:p.Glu249Val
XM_017026467.1:c.701A>T	XP_016881956.1:p.Glu234Val
XR_001753633.2:n.871A>T
XR_001753634.2:n.871A>T
NM_000400.4:c.824A>T MANE Select	NP_000391.1:p.Glu275Val
NM_001130867.2:c.752A>T	NP_001124339.1:p.Glu251Val