Canonical Allele Identifier: CA367892533

Gene: CACNA2D1

Linked Data

• MyVariant Identifiers: chr7:g.81603771A>G (hg19) ; chr7:g.81974455A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.81974455A>G , CM000669.2:g.81974455A>G	GRCh38
NC_000007.13:g.81603771A>G , CM000669.1:g.81603771A>G	GRCh37
NC_000007.12:g.81441707A>G	NCBI36
NG_009358.2:g.474261T>C , LRG_437:g.474261T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000443883.2:c.2089T>C	ENSP00000409374.2:p.Cys697Arg
ENST00000705961.1:c.1820T>C
ENST00000705962.1:c.1933T>C	ENSP00000516190.1:p.Cys645Arg
ENST00000356860.8:c.2053T>C MANE Select	ENSP00000349320.3:p.Cys685Arg
ENST00000356253.9:c.2089T>C	ENSP00000348589.5:p.Cys697Arg
ENST00000356860.7:c.2053T>C	ENSP00000349320.3:p.Cys685Arg
ENST00000443883.1:c.585T>C
NM_000722.3:c.2053T>C	NP_000713.2:p.Cys685Arg
XM_005250570.1:c.2089T>C	XP_005250627.1:p.Cys697Arg
XM_005250572.1:c.2038T>C	XP_005250629.1:p.Cys680Arg
XM_005250573.1:c.2032T>C	XP_005250630.1:p.Cys678Arg
XM_005250574.1:c.2017T>C	XP_005250631.1:p.Cys673Arg
XM_006716118.1:c.2110T>C	XP_006716181.1:p.Cys704Arg
XM_006716119.2:c.2035T>C	XP_006716182.1:p.Cys679Arg
XM_006716120.2:c.1993T>C	XP_006716183.1:p.Cys665Arg
XM_006716121.2:c.520T>C	XP_006716184.1:p.Cys174Arg
XM_011516570.1:c.2110T>C	XP_011514872.1:p.Cys704Arg
XM_011516571.1:c.2095T>C	XP_011514873.1:p.Cys699Arg
XM_011516572.1:c.2074T>C	XP_011514874.1:p.Cys692Arg
XM_011516573.1:c.1879T>C	XP_011514875.1:p.Cys627Arg
NM_001366867.1:c.2089T>C	NP_001353796.1:p.Cys697Arg
XM_005250572.3:c.2038T>C	XP_005250629.1:p.Cys680Arg
XM_005250573.3:c.2032T>C	XP_005250630.1:p.Cys678Arg
XM_005250574.3:c.2017T>C	XP_005250631.1:p.Cys673Arg
XM_006716118.3:c.2110T>C	XP_006716181.1:p.Cys704Arg
XM_006716119.3:c.2035T>C	XP_006716182.1:p.Cys679Arg
XM_006716120.3:c.1993T>C	XP_006716183.1:p.Cys665Arg
XM_006716121.3:c.520T>C	XP_006716184.1:p.Cys174Arg
XM_011516570.3:c.2110T>C	XP_011514872.1:p.Cys704Arg
XM_011516571.3:c.2095T>C	XP_011514873.1:p.Cys699Arg
XM_011516572.3:c.2074T>C	XP_011514874.1:p.Cys692Arg
XM_017012588.1:c.1936T>C	XP_016868077.1:p.Cys646Arg
XR_001744873.2:n.2130T>C
XR_001744874.2:n.2037T>C
NM_000722.4:c.2053T>C MANE Select	NP_000713.2:p.Cys685Arg