Canonical Allele Identifier: CA2338389054

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352809G= , CM000681.2:g.45352809G=	GRCh38
NC_000019.9:g.45856067G= , CM000681.1:g.45856067G=	GRCh37
NC_000019.8:g.50547907G=	NCBI36
NG_007067.2:g.22779C= , LRG_461:g.22779C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1839C=	ENSP00000375808.4:p.His613=
ENST00000682414.1:c.1839C=	ENSP00000507019.1:p.His613=
ENST00000682508.1:n.1868C=
ENST00000684218.1:c.*1097C=	ENSP00000507804.1:n.*1097C=
ENST00000684264.1:n.1395C=
ENST00000684407.1:c.1716C=	ENSP00000507775.1:p.His572=
ENST00000684458.1:c.*325C=	ENSP00000508260.1:n.*325C=
ENST00000684468.1:n.1551C=
ENST00000391945.10:c.1839C= MANE Select	ENSP00000375809.4:p.His613=
ENST00000646507.1:n.1936C=
ENST00000391941.6:c.1767C=	ENSP00000375805.2:p.His589=
ENST00000391942.6:n.1010C=
ENST00000391944.7:c.1605C=	ENSP00000375808.3:p.His535=
ENST00000391945.8:c.1839C=	ENSP00000375809.3:p.His613=
ENST00000588652.5:n.1927C=
NM_000400.3:c.1839C= , LRG_461t1:c.1839C=	NP_000391.1:p.His613=
XM_011526611.1:c.1761C=	XP_011524913.1:p.His587=
XM_011526611.2:c.1761C=	XP_011524913.1:p.His587=
XM_017026467.1:c.1716C=	XP_016881956.1:p.His572=
XR_001753633.2:n.1886C=
XR_001753634.2:n.1822C=
NM_000400.4:c.1839C= MANE Select	NP_000391.1:p.His613=