Canonical Allele Identifier: CA2338388857

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352503C= , CM000681.2:g.45352503C=	GRCh38
NC_000019.9:g.45855761C= , CM000681.1:g.45855761C=	GRCh37
NC_000019.8:g.50547601C=	NCBI36
NG_007067.2:g.23085G= , LRG_461:g.23085G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2046+3G=	ENSP00000375808.4:n.2046+3G=
ENST00000682414.1:c.2046+3G=	ENSP00000507019.1:n.2046+3G=
ENST00000682508.1:n.2075+3G=
ENST00000684218.1:c.*1304+3G=	ENSP00000507804.1:n.*1304+3G=
ENST00000684264.1:n.1602+3G=
ENST00000684407.1:c.1923+3G=	ENSP00000507775.1:n.1923+3G=
ENST00000684458.1:c.*532+3G=	ENSP00000508260.1:n.*532+3G=
ENST00000684468.1:n.1758+3G=
ENST00000391945.10:c.2046+3G= MANE Select	ENSP00000375809.4:n.2046+3G=
ENST00000646507.1:n.2143+3G=
ENST00000391941.6:c.1974+3G=	ENSP00000375805.2:n.1974+3G=
ENST00000391942.6:n.1217+3G=
ENST00000391944.7:c.1812+3G=	ENSP00000375808.3:n.1812+3G=
ENST00000391945.8:c.2046+3G=	ENSP00000375809.3:n.2046+3G=
ENST00000588652.5:n.2134+3G=
NM_000400.3:c.2046+3G= , LRG_461t1:c.2046+3G=	NP_000391.1:n.2046+3G=
XM_011526611.1:c.1968+3G=	XP_011524913.1:n.1968+3G=
XM_011526611.2:c.1968+3G=	XP_011524913.1:n.1968+3G=
XM_017026467.1:c.1923+3G=	XP_016881956.1:n.1923+3G=
XR_001753633.2:n.2093+3G=
XR_001753634.2:n.2029+3G=
NM_000400.4:c.2046+3G= MANE Select	NP_000391.1:n.2046+3G=