Canonical Allele Identifier: CA2338388559

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352084A= , CM000681.2:g.45352084A=	GRCh38
NC_000019.9:g.45855342A= , CM000681.1:g.45855342A=	GRCh37
NC_000019.8:g.50547182A=	NCBI36
NG_007067.2:g.23504T= , LRG_461:g.23504T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2315T=	ENSP00000375808.4:p.Phe772=
ENST00000682414.1:c.2190+125T=	ENSP00000507019.1:n.2190+125T=
ENST00000682508.1:n.2219+125T=
ENST00000684218.1:c.*1448+125T=	ENSP00000507804.1:n.*1448+125T=
ENST00000684264.1:n.1746+125T=
ENST00000684407.1:c.2067+125T=	ENSP00000507775.1:n.2067+125T=
ENST00000684458.1:c.*676+125T=	ENSP00000508260.1:n.*676+125T=
ENST00000684468.1:n.1902+125T=
ENST00000391945.10:c.2190+125T= MANE Select	ENSP00000375809.4:n.2190+125T=
ENST00000646507.1:n.2287+125T=
ENST00000391942.6:n.1361+125T=
ENST00000391944.7:c.1956+125T=	ENSP00000375808.3:n.1956+125T=
ENST00000391945.8:c.2190+125T=	ENSP00000375809.3:n.2190+125T=
ENST00000588652.5:n.2278+125T=
NM_000400.3:c.2190+125T= , LRG_461t1:c.2190+125T=	NP_000391.1:n.2190+125T=
XM_011526611.1:c.2112+125T=	XP_011524913.1:n.2112+125T=
XM_011526611.2:c.2112+125T=	XP_011524913.1:n.2112+125T=
XM_017026467.1:c.2067+125T=	XP_016881956.1:n.2067+125T=
XR_001753633.2:n.2237+125T=
XR_001753634.2:n.2173+125T=
NM_000400.4:c.2190+125T= MANE Select	NP_000391.1:n.2190+125T=