Canonical Allele Identifier: CA1720999262

Gene: CACNA2D1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.81974477T= , CM000669.2:g.81974477T=	GRCh38
NC_000007.13:g.81603793T= , CM000669.1:g.81603793T=	GRCh37
NC_000007.12:g.81441729T=	NCBI36
NG_009358.2:g.474239A= , LRG_437:g.474239A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000443883.2:c.2067A=	ENSP00000409374.2:p.Arg689=
ENST00000705961.1:c.1798A=
ENST00000705962.1:c.1911A=	ENSP00000516190.1:p.Arg637=
ENST00000356860.8:c.2031A= MANE Select	ENSP00000349320.3:p.Arg677=
ENST00000356253.9:c.2067A=	ENSP00000348589.5:p.Arg689=
ENST00000356860.7:c.2031A=	ENSP00000349320.3:p.Arg677=
ENST00000443883.1:c.563A=
NM_000722.3:c.2031A=	NP_000713.2:p.Arg677=
XM_005250570.1:c.2067A=	XP_005250627.1:p.Arg689=
XM_005250572.1:c.2016A=	XP_005250629.1:p.Arg672=
XM_005250573.1:c.2010A=	XP_005250630.1:p.Arg670=
XM_005250574.1:c.1995A=	XP_005250631.1:p.Arg665=
XM_006716118.1:c.2088A=	XP_006716181.1:p.Arg696=
XM_006716119.2:c.2013A=	XP_006716182.1:p.Arg671=
XM_006716120.2:c.1971A=	XP_006716183.1:p.Arg657=
XM_006716121.2:c.498A=	XP_006716184.1:p.Arg166=
XM_011516570.1:c.2088A=	XP_011514872.1:p.Arg696=
XM_011516571.1:c.2073A=	XP_011514873.1:p.Arg691=
XM_011516572.1:c.2052A=	XP_011514874.1:p.Arg684=
XM_011516573.1:c.1857A=	XP_011514875.1:p.Arg619=
NM_001366867.1:c.2067A=	NP_001353796.1:p.Arg689=
XM_005250572.3:c.2016A=	XP_005250629.1:p.Arg672=
XM_005250573.3:c.2010A=	XP_005250630.1:p.Arg670=
XM_005250574.3:c.1995A=	XP_005250631.1:p.Arg665=
XM_006716118.3:c.2088A=	XP_006716181.1:p.Arg696=
XM_006716119.3:c.2013A=	XP_006716182.1:p.Arg671=
XM_006716120.3:c.1971A=	XP_006716183.1:p.Arg657=
XM_006716121.3:c.498A=	XP_006716184.1:p.Arg166=
XM_011516570.3:c.2088A=	XP_011514872.1:p.Arg696=
XM_011516571.3:c.2073A=	XP_011514873.1:p.Arg691=
XM_011516572.3:c.2052A=	XP_011514874.1:p.Arg684=
XM_017012588.1:c.1914A=	XP_016868077.1:p.Arg638=
XR_001744873.2:n.2108A=
XR_001744874.2:n.2015A=
NM_000722.4:c.2031A= MANE Select	NP_000713.2:p.Arg677=