Canonical Allele Identifier: CA2683539746

Gene: CACNA2D1

Linked Data

• gnomAD v4: 7-81974411-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.81974411T>G , CM000669.2:g.81974411T>G	GRCh38
NC_000007.13:g.81603727T>G , CM000669.1:g.81603727T>G	GRCh37
NC_000007.12:g.81441663T>G	NCBI36
NG_009358.2:g.474305A>C , LRG_437:g.474305A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000443883.2:c.2089+44A>C	ENSP00000409374.2:n.2089+44A>C
ENST00000705961.1:c.1820+44A>C
ENST00000705962.1:c.1933+44A>C	ENSP00000516190.1:n.1933+44A>C
ENST00000356860.8:c.2053+44A>C MANE Select	ENSP00000349320.3:n.2053+44A>C
ENST00000356253.9:c.2089+44A>C	ENSP00000348589.5:n.2089+44A>C
ENST00000356860.7:c.2053+44A>C	ENSP00000349320.3:n.2053+44A>C
ENST00000443883.1:c.585+44A>C
NM_000722.3:c.2053+44A>C	NP_000713.2:n.2053+44A>C
XM_005250570.1:c.2089+44A>C	XP_005250627.1:n.2089+44A>C
XM_005250572.1:c.2038+44A>C	XP_005250629.1:n.2038+44A>C
XM_005250573.1:c.2032+44A>C	XP_005250630.1:n.2032+44A>C
XM_005250574.1:c.2017+44A>C	XP_005250631.1:n.2017+44A>C
XM_006716118.1:c.2110+44A>C	XP_006716181.1:n.2110+44A>C
XM_006716119.2:c.2035+44A>C	XP_006716182.1:n.2035+44A>C
XM_006716120.2:c.1993+44A>C	XP_006716183.1:n.1993+44A>C
XM_006716121.2:c.520+44A>C	XP_006716184.1:n.520+44A>C
XM_011516570.1:c.2110+44A>C	XP_011514872.1:n.2110+44A>C
XM_011516571.1:c.2095+44A>C	XP_011514873.1:n.2095+44A>C
XM_011516572.1:c.2074+44A>C	XP_011514874.1:n.2074+44A>C
XM_011516573.1:c.1879+44A>C	XP_011514875.1:n.1879+44A>C
NM_001366867.1:c.2089+44A>C	NP_001353796.1:n.2089+44A>C
XM_005250572.3:c.2038+44A>C	XP_005250629.1:n.2038+44A>C
XM_005250573.3:c.2032+44A>C	XP_005250630.1:n.2032+44A>C
XM_005250574.3:c.2017+44A>C	XP_005250631.1:n.2017+44A>C
XM_006716118.3:c.2110+44A>C	XP_006716181.1:n.2110+44A>C
XM_006716119.3:c.2035+44A>C	XP_006716182.1:n.2035+44A>C
XM_006716120.3:c.1993+44A>C	XP_006716183.1:n.1993+44A>C
XM_006716121.3:c.520+44A>C	XP_006716184.1:n.520+44A>C
XM_011516570.3:c.2110+44A>C	XP_011514872.1:n.2110+44A>C
XM_011516571.3:c.2095+44A>C	XP_011514873.1:n.2095+44A>C
XM_011516572.3:c.2074+44A>C	XP_011514874.1:n.2074+44A>C
XM_017012588.1:c.1936+44A>C	XP_016868077.1:n.1936+44A>C
XR_001744873.2:n.2130+44A>C
XR_001744874.2:n.2037+44A>C
NM_000722.4:c.2053+44A>C MANE Select	NP_000713.2:n.2053+44A>C