Canonical Allele Identifier: CA2338389029

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352770G= , CM000681.2:g.45352770G=	GRCh38
NC_000019.9:g.45856028G= , CM000681.1:g.45856028G=	GRCh37
NC_000019.8:g.50547868G=	NCBI36
NG_007067.2:g.22818C= , LRG_461:g.22818C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1878C=	ENSP00000375808.4:p.Val626=
ENST00000682414.1:c.1878C=	ENSP00000507019.1:p.Val626=
ENST00000682508.1:n.1907C=
ENST00000684218.1:c.*1136C=	ENSP00000507804.1:n.*1136C=
ENST00000684264.1:n.1434C=
ENST00000684407.1:c.1755C=	ENSP00000507775.1:p.Val585=
ENST00000684458.1:c.*364C=	ENSP00000508260.1:n.*364C=
ENST00000684468.1:n.1590C=
ENST00000391945.10:c.1878C= MANE Select	ENSP00000375809.4:p.Val626=
ENST00000646507.1:n.1975C=
ENST00000391941.6:c.1806C=	ENSP00000375805.2:p.Val602=
ENST00000391942.6:n.1049C=
ENST00000391944.7:c.1644C=	ENSP00000375808.3:p.Val548=
ENST00000391945.8:c.1878C=	ENSP00000375809.3:p.Val626=
ENST00000588652.5:n.1966C=
NM_000400.3:c.1878C= , LRG_461t1:c.1878C=	NP_000391.1:p.Val626=
XM_011526611.1:c.1800C=	XP_011524913.1:p.Val600=
XM_011526611.2:c.1800C=	XP_011524913.1:p.Val600=
XM_017026467.1:c.1755C=	XP_016881956.1:p.Val585=
XR_001753633.2:n.1925C=
XR_001753634.2:n.1861C=
NM_000400.4:c.1878C= MANE Select	NP_000391.1:p.Val626=