Canonical Allele Identifier: CA456132634

Gene: CACNA2D1

Linked Data

• MyVariant Identifiers: chr7:g.81603784T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.81974468T>G , CM000669.2:g.81974468T>G	GRCh38
NC_000007.13:g.81603784T>G , CM000669.1:g.81603784T>G	GRCh37
NC_000007.12:g.81441720T>G	NCBI36
NG_009358.2:g.474248A>C , LRG_437:g.474248A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000443883.2:c.2076A>C	ENSP00000409374.2:p.Pro692=
ENST00000705961.1:c.1807A>C
ENST00000705962.1:c.1920A>C	ENSP00000516190.1:p.Pro640=
ENST00000356860.8:c.2040A>C MANE Select	ENSP00000349320.3:p.Pro680=
ENST00000356253.9:c.2076A>C	ENSP00000348589.5:p.Pro692=
ENST00000356860.7:c.2040A>C	ENSP00000349320.3:p.Pro680=
ENST00000443883.1:c.572A>C
NM_000722.3:c.2040A>C	NP_000713.2:p.Pro680=
XM_005250570.1:c.2076A>C	XP_005250627.1:p.Pro692=
XM_005250572.1:c.2025A>C	XP_005250629.1:p.Pro675=
XM_005250573.1:c.2019A>C	XP_005250630.1:p.Pro673=
XM_005250574.1:c.2004A>C	XP_005250631.1:p.Pro668=
XM_006716118.1:c.2097A>C	XP_006716181.1:p.Pro699=
XM_006716119.2:c.2022A>C	XP_006716182.1:p.Pro674=
XM_006716120.2:c.1980A>C	XP_006716183.1:p.Pro660=
XM_006716121.2:c.507A>C	XP_006716184.1:p.Pro169=
XM_011516570.1:c.2097A>C	XP_011514872.1:p.Pro699=
XM_011516571.1:c.2082A>C	XP_011514873.1:p.Pro694=
XM_011516572.1:c.2061A>C	XP_011514874.1:p.Pro687=
XM_011516573.1:c.1866A>C	XP_011514875.1:p.Pro622=
NM_001366867.1:c.2076A>C	NP_001353796.1:p.Pro692=
XM_005250572.3:c.2025A>C	XP_005250629.1:p.Pro675=
XM_005250573.3:c.2019A>C	XP_005250630.1:p.Pro673=
XM_005250574.3:c.2004A>C	XP_005250631.1:p.Pro668=
XM_006716118.3:c.2097A>C	XP_006716181.1:p.Pro699=
XM_006716119.3:c.2022A>C	XP_006716182.1:p.Pro674=
XM_006716120.3:c.1980A>C	XP_006716183.1:p.Pro660=
XM_006716121.3:c.507A>C	XP_006716184.1:p.Pro169=
XM_011516570.3:c.2097A>C	XP_011514872.1:p.Pro699=
XM_011516571.3:c.2082A>C	XP_011514873.1:p.Pro694=
XM_011516572.3:c.2061A>C	XP_011514874.1:p.Pro687=
XM_017012588.1:c.1923A>C	XP_016868077.1:p.Pro641=
XR_001744873.2:n.2117A>C
XR_001744874.2:n.2024A>C
NM_000722.4:c.2040A>C MANE Select	NP_000713.2:p.Pro680=