Canonical Allele Identifier: CA2338388688

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352239G= , CM000681.2:g.45352239G=	GRCh38
NC_000019.9:g.45855497G= , CM000681.1:g.45855497G=	GRCh37
NC_000019.8:g.50547337G=	NCBI36
NG_007067.2:g.23349C= , LRG_461:g.23349C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2160C=	ENSP00000375808.4:p.Phe720=
ENST00000682414.1:c.2160C=	ENSP00000507019.1:p.Phe720=
ENST00000682508.1:n.2189C=
ENST00000684218.1:c.*1418C=	ENSP00000507804.1:n.*1418C=
ENST00000684264.1:n.1716C=
ENST00000684407.1:c.2037C=	ENSP00000507775.1:p.Phe679=
ENST00000684458.1:c.*646C=	ENSP00000508260.1:n.*646C=
ENST00000684468.1:n.1872C=
ENST00000391945.10:c.2160C= MANE Select	ENSP00000375809.4:p.Phe720=
ENST00000646507.1:n.2257C=
ENST00000391941.6:c.2088C=	ENSP00000375805.2:p.Phe696=
ENST00000391942.6:n.1331C=
ENST00000391944.7:c.1926C=	ENSP00000375808.3:p.Phe642=
ENST00000391945.8:c.2160C=	ENSP00000375809.3:p.Phe720=
ENST00000588652.5:n.2248C=
NM_000400.3:c.2160C= , LRG_461t1:c.2160C=	NP_000391.1:p.Phe720=
XM_011526611.1:c.2082C=	XP_011524913.1:p.Phe694=
XM_011526611.2:c.2082C=	XP_011524913.1:p.Phe694=
XM_017026467.1:c.2037C=	XP_016881956.1:p.Phe679=
XR_001753633.2:n.2207C=
XR_001753634.2:n.2143C=
NM_000400.4:c.2160C= MANE Select	NP_000391.1:p.Phe720=