Canonical Allele Identifier: CA2338388933

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352624T= , CM000681.2:g.45352624T=	GRCh38
NC_000019.9:g.45855882T= , CM000681.1:g.45855882T=	GRCh37
NC_000019.8:g.50547722T=	NCBI36
NG_007067.2:g.22964A= , LRG_461:g.22964A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1928A=	ENSP00000375808.4:p.Gln643=
ENST00000682414.1:c.1928A=	ENSP00000507019.1:p.Gln643=
ENST00000682508.1:n.1957A=
ENST00000684218.1:c.*1186A=	ENSP00000507804.1:n.*1186A=
ENST00000684264.1:n.1484A=
ENST00000684407.1:c.1805A=	ENSP00000507775.1:p.Gln602=
ENST00000684458.1:c.*414A=	ENSP00000508260.1:n.*414A=
ENST00000684468.1:n.1640A=
ENST00000391945.10:c.1928A= MANE Select	ENSP00000375809.4:p.Gln643=
ENST00000646507.1:n.2025A=
ENST00000391941.6:c.1856A=	ENSP00000375805.2:p.Gln619=
ENST00000391942.6:n.1099A=
ENST00000391944.7:c.1694A=	ENSP00000375808.3:p.Gln565=
ENST00000391945.8:c.1928A=	ENSP00000375809.3:p.Gln643=
ENST00000588652.5:n.2016A=
NM_000400.3:c.1928A= , LRG_461t1:c.1928A=	NP_000391.1:p.Gln643=
XM_011526611.1:c.1850A=	XP_011524913.1:p.Gln617=
XM_011526611.2:c.1850A=	XP_011524913.1:p.Gln617=
XM_017026467.1:c.1805A=	XP_016881956.1:p.Gln602=
XR_001753633.2:n.1975A=
XR_001753634.2:n.1911A=
NM_000400.4:c.1928A= MANE Select	NP_000391.1:p.Gln643=