Canonical Allele Identifier: CA2338389429

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353341A= , CM000681.2:g.45353341A=	GRCh38
NC_000019.9:g.45856599A= , CM000681.1:g.45856599A=	GRCh37
NC_000019.8:g.50548439A=	NCBI36
NG_007067.2:g.22247T= , LRG_461:g.22247T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1666-7T=	ENSP00000375808.4:n.1666-7T=
ENST00000682414.1:c.1666-7T=	ENSP00000507019.1:n.1666-7T=
ENST00000682508.1:n.1695-7T=
ENST00000684218.1:c.*924-7T=	ENSP00000507804.1:n.*924-7T=
ENST00000684264.1:n.1222-7T=
ENST00000684407.1:c.1543-7T=	ENSP00000507775.1:n.1543-7T=
ENST00000684458.1:c.*152-7T=	ENSP00000508260.1:n.*152-7T=
ENST00000684468.1:n.1378-7T=
ENST00000391945.10:c.1666-7T= MANE Select	ENSP00000375809.4:n.1666-7T=
ENST00000587376.6:c.725-7T=
ENST00000646507.1:n.1763-7T=
ENST00000391941.6:c.1594-7T=	ENSP00000375805.2:n.1594-7T=
ENST00000391942.6:n.837-7T=
ENST00000391944.7:c.1432-7T=	ENSP00000375808.3:n.1432-7T=
ENST00000391945.8:c.1666-7T=	ENSP00000375809.3:n.1666-7T=
ENST00000587376.5:c.725-7T=
ENST00000588652.5:n.1754-7T=
NM_000400.3:c.1666-7T= , LRG_461t1:c.1666-7T=	NP_000391.1:n.1666-7T=
XM_011526611.1:c.1588-7T=	XP_011524913.1:n.1588-7T=
XR_935763.1:n.1649-7T=
XM_011526611.2:c.1588-7T=	XP_011524913.1:n.1588-7T=
XM_017026467.1:c.1543-7T=	XP_016881956.1:n.1543-7T=
XR_001753633.2:n.1713-7T=
XR_001753634.2:n.1649-7T=
NM_000400.4:c.1666-7T= MANE Select	NP_000391.1:n.1666-7T=