Canonical Allele Identifier: CA367892573

Gene: CACNA2D1

Linked Data

• gnomAD v4: 7-81974473-T-C
• MyVariant Identifiers: chr7:g.81603789T>C (hg19) ; chr7:g.81974473T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.81974473T>C , CM000669.2:g.81974473T>C	GRCh38
NC_000007.13:g.81603789T>C , CM000669.1:g.81603789T>C	GRCh37
NC_000007.12:g.81441725T>C	NCBI36
NG_009358.2:g.474243A>G , LRG_437:g.474243A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000443883.2:c.2071A>G	ENSP00000409374.2:p.Thr691Ala
ENST00000705961.1:c.1802A>G
ENST00000705962.1:c.1915A>G	ENSP00000516190.1:p.Thr639Ala
ENST00000356860.8:c.2035A>G MANE Select	ENSP00000349320.3:p.Thr679Ala
ENST00000356253.9:c.2071A>G	ENSP00000348589.5:p.Thr691Ala
ENST00000356860.7:c.2035A>G	ENSP00000349320.3:p.Thr679Ala
ENST00000443883.1:c.567A>G
NM_000722.3:c.2035A>G	NP_000713.2:p.Thr679Ala
XM_005250570.1:c.2071A>G	XP_005250627.1:p.Thr691Ala
XM_005250572.1:c.2020A>G	XP_005250629.1:p.Thr674Ala
XM_005250573.1:c.2014A>G	XP_005250630.1:p.Thr672Ala
XM_005250574.1:c.1999A>G	XP_005250631.1:p.Thr667Ala
XM_006716118.1:c.2092A>G	XP_006716181.1:p.Thr698Ala
XM_006716119.2:c.2017A>G	XP_006716182.1:p.Thr673Ala
XM_006716120.2:c.1975A>G	XP_006716183.1:p.Thr659Ala
XM_006716121.2:c.502A>G	XP_006716184.1:p.Thr168Ala
XM_011516570.1:c.2092A>G	XP_011514872.1:p.Thr698Ala
XM_011516571.1:c.2077A>G	XP_011514873.1:p.Thr693Ala
XM_011516572.1:c.2056A>G	XP_011514874.1:p.Thr686Ala
XM_011516573.1:c.1861A>G	XP_011514875.1:p.Thr621Ala
NM_001366867.1:c.2071A>G	NP_001353796.1:p.Thr691Ala
XM_005250572.3:c.2020A>G	XP_005250629.1:p.Thr674Ala
XM_005250573.3:c.2014A>G	XP_005250630.1:p.Thr672Ala
XM_005250574.3:c.1999A>G	XP_005250631.1:p.Thr667Ala
XM_006716118.3:c.2092A>G	XP_006716181.1:p.Thr698Ala
XM_006716119.3:c.2017A>G	XP_006716182.1:p.Thr673Ala
XM_006716120.3:c.1975A>G	XP_006716183.1:p.Thr659Ala
XM_006716121.3:c.502A>G	XP_006716184.1:p.Thr168Ala
XM_011516570.3:c.2092A>G	XP_011514872.1:p.Thr698Ala
XM_011516571.3:c.2077A>G	XP_011514873.1:p.Thr693Ala
XM_011516572.3:c.2056A>G	XP_011514874.1:p.Thr686Ala
XM_017012588.1:c.1918A>G	XP_016868077.1:p.Thr640Ala
XR_001744873.2:n.2112A>G
XR_001744874.2:n.2019A>G
NM_000722.4:c.2035A>G MANE Select	NP_000713.2:p.Thr679Ala