Canonical Allele Identifier: CA2338388625

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352153T= , CM000681.2:g.45352153T=	GRCh38
NC_000019.9:g.45855411T= , CM000681.1:g.45855411T=	GRCh37
NC_000019.8:g.50547251T=	NCBI36
NG_007067.2:g.23435A= , LRG_461:g.23435A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2246A=	ENSP00000375808.4:p.Lys749=
ENST00000682414.1:c.2190+56A=	ENSP00000507019.1:n.2190+56A=
ENST00000682508.1:n.2219+56A=
ENST00000684218.1:c.*1448+56A=	ENSP00000507804.1:n.*1448+56A=
ENST00000684264.1:n.1746+56A=
ENST00000684407.1:c.2067+56A=	ENSP00000507775.1:n.2067+56A=
ENST00000684458.1:c.*676+56A=	ENSP00000508260.1:n.*676+56A=
ENST00000684468.1:n.1902+56A=
ENST00000391945.10:c.2190+56A= MANE Select	ENSP00000375809.4:n.2190+56A=
ENST00000646507.1:n.2287+56A=
ENST00000391942.6:n.1361+56A=
ENST00000391944.7:c.1956+56A=	ENSP00000375808.3:n.1956+56A=
ENST00000391945.8:c.2190+56A=	ENSP00000375809.3:n.2190+56A=
ENST00000588652.5:n.2278+56A=
NM_000400.3:c.2190+56A= , LRG_461t1:c.2190+56A=	NP_000391.1:n.2190+56A=
XM_011526611.1:c.2112+56A=	XP_011524913.1:n.2112+56A=
XM_011526611.2:c.2112+56A=	XP_011524913.1:n.2112+56A=
XM_017026467.1:c.2067+56A=	XP_016881956.1:n.2067+56A=
XR_001753633.2:n.2237+56A=
XR_001753634.2:n.2173+56A=
NM_000400.4:c.2190+56A= MANE Select	NP_000391.1:n.2190+56A=