Canonical Allele Identifier: CA2338388924

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352602G= , CM000681.2:g.45352602G=	GRCh38
NC_000019.9:g.45855860G= , CM000681.1:g.45855860G=	GRCh37
NC_000019.8:g.50547700G=	NCBI36
NG_007067.2:g.22986C= , LRG_461:g.22986C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1950C=	ENSP00000375808.4:p.Asp650=
ENST00000682414.1:c.1950C=	ENSP00000507019.1:p.Asp650=
ENST00000682508.1:n.1979C=
ENST00000684218.1:c.*1208C=	ENSP00000507804.1:n.*1208C=
ENST00000684264.1:n.1506C=
ENST00000684407.1:c.1827C=	ENSP00000507775.1:p.Asp609=
ENST00000684458.1:c.*436C=	ENSP00000508260.1:n.*436C=
ENST00000684468.1:n.1662C=
ENST00000391945.10:c.1950C= MANE Select	ENSP00000375809.4:p.Asp650=
ENST00000646507.1:n.2047C=
ENST00000391941.6:c.1878C=	ENSP00000375805.2:p.Asp626=
ENST00000391942.6:n.1121C=
ENST00000391944.7:c.1716C=	ENSP00000375808.3:p.Asp572=
ENST00000391945.8:c.1950C=	ENSP00000375809.3:p.Asp650=
ENST00000588652.5:n.2038C=
NM_000400.3:c.1950C= , LRG_461t1:c.1950C=	NP_000391.1:p.Asp650=
XM_011526611.1:c.1872C=	XP_011524913.1:p.Asp624=
XM_011526611.2:c.1872C=	XP_011524913.1:p.Asp624=
XM_017026467.1:c.1827C=	XP_016881956.1:p.Asp609=
XR_001753633.2:n.1997C=
XR_001753634.2:n.1933C=
NM_000400.4:c.1950C= MANE Select	NP_000391.1:p.Asp650=