Canonical Allele Identifier: CA161125637

Gene: CACNA2D1

Linked Data

• dbSNP Id: rs932470160
• gnomAD v4: 7-81974384-C-T
• MyVariant Identifiers: chr7:g.81603700C>T (hg19) ; chr7:g.81974384C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.81974384C>T , CM000669.2:g.81974384C>T	GRCh38
NC_000007.13:g.81603700C>T , CM000669.1:g.81603700C>T	GRCh37
NC_000007.12:g.81441636C>T	NCBI36
NG_009358.2:g.474332G>A , LRG_437:g.474332G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000443883.2:c.2089+71G>A	ENSP00000409374.2:n.2089+71G>A
ENST00000705961.1:c.1820+71G>A
ENST00000705962.1:c.1933+71G>A	ENSP00000516190.1:n.1933+71G>A
ENST00000356860.8:c.2053+71G>A MANE Select	ENSP00000349320.3:n.2053+71G>A
ENST00000356253.9:c.2089+71G>A	ENSP00000348589.5:n.2089+71G>A
ENST00000356860.7:c.2053+71G>A	ENSP00000349320.3:n.2053+71G>A
ENST00000443883.1:c.585+71G>A
NM_000722.3:c.2053+71G>A	NP_000713.2:n.2053+71G>A
XM_005250570.1:c.2089+71G>A	XP_005250627.1:n.2089+71G>A
XM_005250572.1:c.2038+71G>A	XP_005250629.1:n.2038+71G>A
XM_005250573.1:c.2032+71G>A	XP_005250630.1:n.2032+71G>A
XM_005250574.1:c.2017+71G>A	XP_005250631.1:n.2017+71G>A
XM_006716118.1:c.2110+71G>A	XP_006716181.1:n.2110+71G>A
XM_006716119.2:c.2035+71G>A	XP_006716182.1:n.2035+71G>A
XM_006716120.2:c.1993+71G>A	XP_006716183.1:n.1993+71G>A
XM_006716121.2:c.520+71G>A	XP_006716184.1:n.520+71G>A
XM_011516570.1:c.2110+71G>A	XP_011514872.1:n.2110+71G>A
XM_011516571.1:c.2095+71G>A	XP_011514873.1:n.2095+71G>A
XM_011516572.1:c.2074+71G>A	XP_011514874.1:n.2074+71G>A
XM_011516573.1:c.1879+71G>A	XP_011514875.1:n.1879+71G>A
NM_001366867.1:c.2089+71G>A	NP_001353796.1:n.2089+71G>A
XM_005250572.3:c.2038+71G>A	XP_005250629.1:n.2038+71G>A
XM_005250573.3:c.2032+71G>A	XP_005250630.1:n.2032+71G>A
XM_005250574.3:c.2017+71G>A	XP_005250631.1:n.2017+71G>A
XM_006716118.3:c.2110+71G>A	XP_006716181.1:n.2110+71G>A
XM_006716119.3:c.2035+71G>A	XP_006716182.1:n.2035+71G>A
XM_006716120.3:c.1993+71G>A	XP_006716183.1:n.1993+71G>A
XM_006716121.3:c.520+71G>A	XP_006716184.1:n.520+71G>A
XM_011516570.3:c.2110+71G>A	XP_011514872.1:n.2110+71G>A
XM_011516571.3:c.2095+71G>A	XP_011514873.1:n.2095+71G>A
XM_011516572.3:c.2074+71G>A	XP_011514874.1:n.2074+71G>A
XM_017012588.1:c.1936+71G>A	XP_016868077.1:n.1936+71G>A
XR_001744873.2:n.2130+71G>A
XR_001744874.2:n.2037+71G>A
NM_000722.4:c.2053+71G>A MANE Select	NP_000713.2:n.2053+71G>A