Canonical Allele Identifier: CA2338389040

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352789A= , CM000681.2:g.45352789A=	GRCh38
NC_000019.9:g.45856047A= , CM000681.1:g.45856047A=	GRCh37
NC_000019.8:g.50547887A=	NCBI36
NG_007067.2:g.22799T= , LRG_461:g.22799T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1859T=	ENSP00000375808.4:p.Met620=
ENST00000682414.1:c.1859T=	ENSP00000507019.1:p.Met620=
ENST00000682508.1:n.1888T=
ENST00000684218.1:c.*1117T=	ENSP00000507804.1:n.*1117T=
ENST00000684264.1:n.1415T=
ENST00000684407.1:c.1736T=	ENSP00000507775.1:p.Met579=
ENST00000684458.1:c.*345T=	ENSP00000508260.1:n.*345T=
ENST00000684468.1:n.1571T=
ENST00000391945.10:c.1859T= MANE Select	ENSP00000375809.4:p.Met620=
ENST00000646507.1:n.1956T=
ENST00000391941.6:c.1787T=	ENSP00000375805.2:p.Met596=
ENST00000391942.6:n.1030T=
ENST00000391944.7:c.1625T=	ENSP00000375808.3:p.Met542=
ENST00000391945.8:c.1859T=	ENSP00000375809.3:p.Met620=
ENST00000588652.5:n.1947T=
NM_000400.3:c.1859T= , LRG_461t1:c.1859T=	NP_000391.1:p.Met620=
XM_011526611.1:c.1781T=	XP_011524913.1:p.Met594=
XM_011526611.2:c.1781T=	XP_011524913.1:p.Met594=
XM_017026467.1:c.1736T=	XP_016881956.1:p.Met579=
XR_001753633.2:n.1906T=
XR_001753634.2:n.1842T=
NM_000400.4:c.1859T= MANE Select	NP_000391.1:p.Met620=