Canonical Allele Identifier: CA367892565

Gene: CACNA2D1

Linked Data

• MyVariant Identifiers: chr7:g.81603785G>A (hg19) ; chr7:g.81974469G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.81974469G>A , CM000669.2:g.81974469G>A	GRCh38
NC_000007.13:g.81603785G>A , CM000669.1:g.81603785G>A	GRCh37
NC_000007.12:g.81441721G>A	NCBI36
NG_009358.2:g.474247C>T , LRG_437:g.474247C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000443883.2:c.2075C>T	ENSP00000409374.2:p.Pro692Leu
ENST00000705961.1:c.1806C>T
ENST00000705962.1:c.1919C>T	ENSP00000516190.1:p.Pro640Leu
ENST00000356860.8:c.2039C>T MANE Select	ENSP00000349320.3:p.Pro680Leu
ENST00000356253.9:c.2075C>T	ENSP00000348589.5:p.Pro692Leu
ENST00000356860.7:c.2039C>T	ENSP00000349320.3:p.Pro680Leu
ENST00000443883.1:c.571C>T
NM_000722.3:c.2039C>T	NP_000713.2:p.Pro680Leu
XM_005250570.1:c.2075C>T	XP_005250627.1:p.Pro692Leu
XM_005250572.1:c.2024C>T	XP_005250629.1:p.Pro675Leu
XM_005250573.1:c.2018C>T	XP_005250630.1:p.Pro673Leu
XM_005250574.1:c.2003C>T	XP_005250631.1:p.Pro668Leu
XM_006716118.1:c.2096C>T	XP_006716181.1:p.Pro699Leu
XM_006716119.2:c.2021C>T	XP_006716182.1:p.Pro674Leu
XM_006716120.2:c.1979C>T	XP_006716183.1:p.Pro660Leu
XM_006716121.2:c.506C>T	XP_006716184.1:p.Pro169Leu
XM_011516570.1:c.2096C>T	XP_011514872.1:p.Pro699Leu
XM_011516571.1:c.2081C>T	XP_011514873.1:p.Pro694Leu
XM_011516572.1:c.2060C>T	XP_011514874.1:p.Pro687Leu
XM_011516573.1:c.1865C>T	XP_011514875.1:p.Pro622Leu
NM_001366867.1:c.2075C>T	NP_001353796.1:p.Pro692Leu
XM_005250572.3:c.2024C>T	XP_005250629.1:p.Pro675Leu
XM_005250573.3:c.2018C>T	XP_005250630.1:p.Pro673Leu
XM_005250574.3:c.2003C>T	XP_005250631.1:p.Pro668Leu
XM_006716118.3:c.2096C>T	XP_006716181.1:p.Pro699Leu
XM_006716119.3:c.2021C>T	XP_006716182.1:p.Pro674Leu
XM_006716120.3:c.1979C>T	XP_006716183.1:p.Pro660Leu
XM_006716121.3:c.506C>T	XP_006716184.1:p.Pro169Leu
XM_011516570.3:c.2096C>T	XP_011514872.1:p.Pro699Leu
XM_011516571.3:c.2081C>T	XP_011514873.1:p.Pro694Leu
XM_011516572.3:c.2060C>T	XP_011514874.1:p.Pro687Leu
XM_017012588.1:c.1922C>T	XP_016868077.1:p.Pro641Leu
XR_001744873.2:n.2116C>T
XR_001744874.2:n.2023C>T
NM_000722.4:c.2039C>T MANE Select	NP_000713.2:p.Pro680Leu