Canonical Allele Identifier: CA2338388878

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352537G= , CM000681.2:g.45352537G=	GRCh38
NC_000019.9:g.45855795G= , CM000681.1:g.45855795G=	GRCh37
NC_000019.8:g.50547635G=	NCBI36
NG_007067.2:g.23051C= , LRG_461:g.23051C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2015C=	ENSP00000375808.4:p.Thr672=
ENST00000682414.1:c.2015C=	ENSP00000507019.1:p.Thr672=
ENST00000682508.1:n.2044C=
ENST00000684218.1:c.*1273C=	ENSP00000507804.1:n.*1273C=
ENST00000684264.1:n.1571C=
ENST00000684407.1:c.1892C=	ENSP00000507775.1:p.Thr631=
ENST00000684458.1:c.*501C=	ENSP00000508260.1:n.*501C=
ENST00000684468.1:n.1727C=
ENST00000391945.10:c.2015C= MANE Select	ENSP00000375809.4:p.Thr672=
ENST00000646507.1:n.2112C=
ENST00000391941.6:c.1943C=	ENSP00000375805.2:p.Thr648=
ENST00000391942.6:n.1186C=
ENST00000391944.7:c.1781C=	ENSP00000375808.3:p.Thr594=
ENST00000391945.8:c.2015C=	ENSP00000375809.3:p.Thr672=
ENST00000588652.5:n.2103C=
NM_000400.3:c.2015C= , LRG_461t1:c.2015C=	NP_000391.1:p.Thr672=
XM_011526611.1:c.1937C=	XP_011524913.1:p.Thr646=
XM_011526611.2:c.1937C=	XP_011524913.1:p.Thr646=
XM_017026467.1:c.1892C=	XP_016881956.1:p.Thr631=
XR_001753633.2:n.2062C=
XR_001753634.2:n.1998C=
NM_000400.4:c.2015C= MANE Select	NP_000391.1:p.Thr672=