Canonical Allele Identifier: CA367892568

Gene: CACNA2D1

Linked Data

• dbSNP Id: rs2130500889
• gnomAD v4: 7-81974470-G-T
• COSMIC: COSM6219467 ; COSM6219468
• MyVariant Identifiers: chr7:g.81603786G>T (hg19) ; chr7:g.81974470G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.81974470G>T , CM000669.2:g.81974470G>T	GRCh38
NC_000007.13:g.81603786G>T , CM000669.1:g.81603786G>T	GRCh37
NC_000007.12:g.81441722G>T	NCBI36
NG_009358.2:g.474246C>A , LRG_437:g.474246C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000443883.2:c.2074C>A	ENSP00000409374.2:p.Pro692Thr
ENST00000705961.1:c.1805C>A
ENST00000705962.1:c.1918C>A	ENSP00000516190.1:p.Pro640Thr
ENST00000356860.8:c.2038C>A MANE Select	ENSP00000349320.3:p.Pro680Thr
ENST00000356253.9:c.2074C>A	ENSP00000348589.5:p.Pro692Thr
ENST00000356860.7:c.2038C>A	ENSP00000349320.3:p.Pro680Thr
ENST00000443883.1:c.570C>A
NM_000722.3:c.2038C>A	NP_000713.2:p.Pro680Thr
XM_005250570.1:c.2074C>A	XP_005250627.1:p.Pro692Thr
XM_005250572.1:c.2023C>A	XP_005250629.1:p.Pro675Thr
XM_005250573.1:c.2017C>A	XP_005250630.1:p.Pro673Thr
XM_005250574.1:c.2002C>A	XP_005250631.1:p.Pro668Thr
XM_006716118.1:c.2095C>A	XP_006716181.1:p.Pro699Thr
XM_006716119.2:c.2020C>A	XP_006716182.1:p.Pro674Thr
XM_006716120.2:c.1978C>A	XP_006716183.1:p.Pro660Thr
XM_006716121.2:c.505C>A	XP_006716184.1:p.Pro169Thr
XM_011516570.1:c.2095C>A	XP_011514872.1:p.Pro699Thr
XM_011516571.1:c.2080C>A	XP_011514873.1:p.Pro694Thr
XM_011516572.1:c.2059C>A	XP_011514874.1:p.Pro687Thr
XM_011516573.1:c.1864C>A	XP_011514875.1:p.Pro622Thr
NM_001366867.1:c.2074C>A	NP_001353796.1:p.Pro692Thr
XM_005250572.3:c.2023C>A	XP_005250629.1:p.Pro675Thr
XM_005250573.3:c.2017C>A	XP_005250630.1:p.Pro673Thr
XM_005250574.3:c.2002C>A	XP_005250631.1:p.Pro668Thr
XM_006716118.3:c.2095C>A	XP_006716181.1:p.Pro699Thr
XM_006716119.3:c.2020C>A	XP_006716182.1:p.Pro674Thr
XM_006716120.3:c.1978C>A	XP_006716183.1:p.Pro660Thr
XM_006716121.3:c.505C>A	XP_006716184.1:p.Pro169Thr
XM_011516570.3:c.2095C>A	XP_011514872.1:p.Pro699Thr
XM_011516571.3:c.2080C>A	XP_011514873.1:p.Pro694Thr
XM_011516572.3:c.2059C>A	XP_011514874.1:p.Pro687Thr
XM_017012588.1:c.1921C>A	XP_016868077.1:p.Pro641Thr
XR_001744873.2:n.2115C>A
XR_001744874.2:n.2022C>A
NM_000722.4:c.2038C>A MANE Select	NP_000713.2:p.Pro680Thr