Canonical Allele Identifier: CA367892558

Gene: CACNA2D1

Linked Data

• MyVariant Identifiers: chr7:g.81603782T>C (hg19) ; chr7:g.81974466T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.81974466T>C , CM000669.2:g.81974466T>C	GRCh38
NC_000007.13:g.81603782T>C , CM000669.1:g.81603782T>C	GRCh37
NC_000007.12:g.81441718T>C	NCBI36
NG_009358.2:g.474250A>G , LRG_437:g.474250A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000443883.2:c.2078A>G	ENSP00000409374.2:p.Asn693Ser
ENST00000705961.1:c.1809A>G
ENST00000705962.1:c.1922A>G	ENSP00000516190.1:p.Asn641Ser
ENST00000356860.8:c.2042A>G MANE Select	ENSP00000349320.3:p.Asn681Ser
ENST00000356253.9:c.2078A>G	ENSP00000348589.5:p.Asn693Ser
ENST00000356860.7:c.2042A>G	ENSP00000349320.3:p.Asn681Ser
ENST00000443883.1:c.574A>G
NM_000722.3:c.2042A>G	NP_000713.2:p.Asn681Ser
XM_005250570.1:c.2078A>G	XP_005250627.1:p.Asn693Ser
XM_005250572.1:c.2027A>G	XP_005250629.1:p.Asn676Ser
XM_005250573.1:c.2021A>G	XP_005250630.1:p.Asn674Ser
XM_005250574.1:c.2006A>G	XP_005250631.1:p.Asn669Ser
XM_006716118.1:c.2099A>G	XP_006716181.1:p.Asn700Ser
XM_006716119.2:c.2024A>G	XP_006716182.1:p.Asn675Ser
XM_006716120.2:c.1982A>G	XP_006716183.1:p.Asn661Ser
XM_006716121.2:c.509A>G	XP_006716184.1:p.Asn170Ser
XM_011516570.1:c.2099A>G	XP_011514872.1:p.Asn700Ser
XM_011516571.1:c.2084A>G	XP_011514873.1:p.Asn695Ser
XM_011516572.1:c.2063A>G	XP_011514874.1:p.Asn688Ser
XM_011516573.1:c.1868A>G	XP_011514875.1:p.Asn623Ser
NM_001366867.1:c.2078A>G	NP_001353796.1:p.Asn693Ser
XM_005250572.3:c.2027A>G	XP_005250629.1:p.Asn676Ser
XM_005250573.3:c.2021A>G	XP_005250630.1:p.Asn674Ser
XM_005250574.3:c.2006A>G	XP_005250631.1:p.Asn669Ser
XM_006716118.3:c.2099A>G	XP_006716181.1:p.Asn700Ser
XM_006716119.3:c.2024A>G	XP_006716182.1:p.Asn675Ser
XM_006716120.3:c.1982A>G	XP_006716183.1:p.Asn661Ser
XM_006716121.3:c.509A>G	XP_006716184.1:p.Asn170Ser
XM_011516570.3:c.2099A>G	XP_011514872.1:p.Asn700Ser
XM_011516571.3:c.2084A>G	XP_011514873.1:p.Asn695Ser
XM_011516572.3:c.2063A>G	XP_011514874.1:p.Asn688Ser
XM_017012588.1:c.1925A>G	XP_016868077.1:p.Asn642Ser
XR_001744873.2:n.2119A>G
XR_001744874.2:n.2026A>G
NM_000722.4:c.2042A>G MANE Select	NP_000713.2:p.Asn681Ser