Canonical Allele Identifier: CA367892583

Gene: CACNA2D1

Linked Data

• MyVariant Identifiers: chr7:g.81603793T>A (hg19) ; chr7:g.81974477T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000443883.2:c.2067A>T	ENSP00000409374.2:p.Arg689Ser
ENST00000705961.1:c.1798A>T
ENST00000705962.1:c.1911A>T	ENSP00000516190.1:p.Arg637Ser
ENST00000356860.8:c.2031A>T MANE Select	ENSP00000349320.3:p.Arg677Ser
ENST00000356253.9:c.2067A>T	ENSP00000348589.5:p.Arg689Ser
ENST00000356860.7:c.2031A>T	ENSP00000349320.3:p.Arg677Ser
ENST00000443883.1:c.563A>T
NM_000722.3:c.2031A>T	NP_000713.2:p.Arg677Ser
XM_005250570.1:c.2067A>T	XP_005250627.1:p.Arg689Ser
XM_005250572.1:c.2016A>T	XP_005250629.1:p.Arg672Ser
XM_005250573.1:c.2010A>T	XP_005250630.1:p.Arg670Ser
XM_005250574.1:c.1995A>T	XP_005250631.1:p.Arg665Ser
XM_006716118.1:c.2088A>T	XP_006716181.1:p.Arg696Ser
XM_006716119.2:c.2013A>T	XP_006716182.1:p.Arg671Ser
XM_006716120.2:c.1971A>T	XP_006716183.1:p.Arg657Ser
XM_006716121.2:c.498A>T	XP_006716184.1:p.Arg166Ser
XM_011516570.1:c.2088A>T	XP_011514872.1:p.Arg696Ser
XM_011516571.1:c.2073A>T	XP_011514873.1:p.Arg691Ser
XM_011516572.1:c.2052A>T	XP_011514874.1:p.Arg684Ser
XM_011516573.1:c.1857A>T	XP_011514875.1:p.Arg619Ser
NM_001366867.1:c.2067A>T	NP_001353796.1:p.Arg689Ser
XM_005250572.3:c.2016A>T	XP_005250629.1:p.Arg672Ser
XM_005250573.3:c.2010A>T	XP_005250630.1:p.Arg670Ser
XM_005250574.3:c.1995A>T	XP_005250631.1:p.Arg665Ser
XM_006716118.3:c.2088A>T	XP_006716181.1:p.Arg696Ser
XM_006716119.3:c.2013A>T	XP_006716182.1:p.Arg671Ser
XM_006716120.3:c.1971A>T	XP_006716183.1:p.Arg657Ser
XM_006716121.3:c.498A>T	XP_006716184.1:p.Arg166Ser
XM_011516570.3:c.2088A>T	XP_011514872.1:p.Arg696Ser
XM_011516571.3:c.2073A>T	XP_011514873.1:p.Arg691Ser
XM_011516572.3:c.2052A>T	XP_011514874.1:p.Arg684Ser
XM_017012588.1:c.1914A>T	XP_016868077.1:p.Arg638Ser
XR_001744873.2:n.2108A>T
XR_001744874.2:n.2015A>T
NM_000722.4:c.2031A>T MANE Select	NP_000713.2:p.Arg677Ser