Canonical Allele Identifier: CA575939916

Gene: CACNA2D1

Linked Data

• dbSNP Id: rs258671
• gnomAD v2: 7-81731446-C-G
• gnomAD v3: 7-82102130-C-G
• gnomAD v4: 7-82102130-C-G
• MyVariant Identifiers: chr7:g.81731446C>G (hg19) ; chr7:g.82102130C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.82102130C>G , CM000669.2:g.82102130C>G	GRCh38
NC_000007.13:g.81731446C>G , CM000669.1:g.81731446C>G	GRCh37
NC_000007.12:g.81569382C>G	NCBI36
NG_009358.2:g.346586G>C , LRG_437:g.346586G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000443883.2:c.526+14914G>C	ENSP00000409374.2:n.526+14914G>C
ENST00000705961.1:c.308+14914G>C
ENST00000705962.1:c.442+14914G>C	ENSP00000516190.1:n.442+14914G>C
ENST00000356860.8:c.526+14914G>C MANE Select	ENSP00000349320.3:n.526+14914G>C
ENST00000356253.9:c.526+14914G>C	ENSP00000348589.5:n.526+14914G>C
ENST00000356860.7:c.526+14914G>C	ENSP00000349320.3:n.526+14914G>C
ENST00000423588.1:c.526+14914G>C	ENSP00000405395.1:n.526+14914G>C
NM_000722.3:c.526+14914G>C	NP_000713.2:n.526+14914G>C
NM_001302890.1:c.526+14914G>C	NP_001289819.1:n.526+14914G>C
XM_005250570.1:c.526+14914G>C	XP_005250627.1:n.526+14914G>C
XM_005250572.1:c.526+14914G>C	XP_005250629.1:n.526+14914G>C
XM_005250573.1:c.526+14914G>C	XP_005250630.1:n.526+14914G>C
XM_005250574.1:c.526+14914G>C	XP_005250631.1:n.526+14914G>C
XM_006716118.1:c.526+14914G>C	XP_006716181.1:n.526+14914G>C
XM_006716119.2:c.451+14914G>C	XP_006716182.1:n.451+14914G>C
XM_006716120.2:c.409+14914G>C	XP_006716183.1:n.409+14914G>C
XM_011516570.1:c.526+14914G>C	XP_011514872.1:n.526+14914G>C
XM_011516571.1:c.526+14914G>C	XP_011514873.1:n.526+14914G>C
XM_011516572.1:c.526+14914G>C	XP_011514874.1:n.526+14914G>C
XM_011516573.1:c.295+14914G>C	XP_011514875.1:n.295+14914G>C
XM_011516574.1:c.526+14914G>C	XP_011514876.1:n.526+14914G>C
NM_001366867.1:c.526+14914G>C	NP_001353796.1:n.526+14914G>C
XM_005250572.3:c.526+14914G>C	XP_005250629.1:n.526+14914G>C
XM_005250573.3:c.526+14914G>C	XP_005250630.1:n.526+14914G>C
XM_005250574.3:c.526+14914G>C	XP_005250631.1:n.526+14914G>C
XM_006716118.3:c.526+14914G>C	XP_006716181.1:n.526+14914G>C
XM_006716119.3:c.451+14914G>C	XP_006716182.1:n.451+14914G>C
XM_006716120.3:c.409+14914G>C	XP_006716183.1:n.409+14914G>C
XM_011516570.3:c.526+14914G>C	XP_011514872.1:n.526+14914G>C
XM_011516571.3:c.526+14914G>C	XP_011514873.1:n.526+14914G>C
XM_011516572.3:c.526+14914G>C	XP_011514874.1:n.526+14914G>C
XM_017012588.1:c.409+14914G>C	XP_016868077.1:n.409+14914G>C
XR_001744873.2:n.546+14914G>C
XR_001744874.2:n.546+14914G>C
NM_000722.4:c.526+14914G>C MANE Select	NP_000713.2:n.526+14914G>C
NM_001302890.2:c.526+14914G>C	NP_001289819.1:n.526+14914G>C