Canonical Allele Identifier: CA2338388680

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352231T= , CM000681.2:g.45352231T=	GRCh38
NC_000019.9:g.45855489T= , CM000681.1:g.45855489T=	GRCh37
NC_000019.8:g.50547329T=	NCBI36
NG_007067.2:g.23357A= , LRG_461:g.23357A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2168A=	ENSP00000375808.4:p.Gln723=
ENST00000682414.1:c.2168A=	ENSP00000507019.1:p.Gln723=
ENST00000682508.1:n.2197A=
ENST00000684218.1:c.*1426A=	ENSP00000507804.1:n.*1426A=
ENST00000684264.1:n.1724A=
ENST00000684407.1:c.2045A=	ENSP00000507775.1:p.Gln682=
ENST00000684458.1:c.*654A=	ENSP00000508260.1:n.*654A=
ENST00000684468.1:n.1880A=
ENST00000391945.10:c.2168A= MANE Select	ENSP00000375809.4:p.Gln723=
ENST00000646507.1:n.2265A=
ENST00000391941.6:c.2096A=	ENSP00000375805.2:p.Gln699=
ENST00000391942.6:n.1339A=
ENST00000391944.7:c.1934A=	ENSP00000375808.3:p.Gln645=
ENST00000391945.8:c.2168A=	ENSP00000375809.3:p.Gln723=
ENST00000588652.5:n.2256A=
NM_000400.3:c.2168A= , LRG_461t1:c.2168A=	NP_000391.1:p.Gln723=
XM_011526611.1:c.2090A=	XP_011524913.1:p.Gln697=
XM_011526611.2:c.2090A=	XP_011524913.1:p.Gln697=
XM_017026467.1:c.2045A=	XP_016881956.1:p.Gln682=
XR_001753633.2:n.2215A=
XR_001753634.2:n.2151A=
NM_000400.4:c.2168A= MANE Select	NP_000391.1:p.Gln723=