Canonical Allele Identifier: CA367892553

Gene: CACNA2D1

Linked Data

• gnomAD v4: 7-81974464-T-C
• MyVariant Identifiers: chr7:g.81603780T>C (hg19) ; chr7:g.81974464T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.81974464T>C , CM000669.2:g.81974464T>C	GRCh38
NC_000007.13:g.81603780T>C , CM000669.1:g.81603780T>C	GRCh37
NC_000007.12:g.81441716T>C	NCBI36
NG_009358.2:g.474252A>G , LRG_437:g.474252A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000443883.2:c.2080A>G	ENSP00000409374.2:p.Asn694Asp
ENST00000705961.1:c.1811A>G
ENST00000705962.1:c.1924A>G	ENSP00000516190.1:p.Asn642Asp
ENST00000356860.8:c.2044A>G MANE Select	ENSP00000349320.3:p.Asn682Asp
ENST00000356253.9:c.2080A>G	ENSP00000348589.5:p.Asn694Asp
ENST00000356860.7:c.2044A>G	ENSP00000349320.3:p.Asn682Asp
ENST00000443883.1:c.576A>G
NM_000722.3:c.2044A>G	NP_000713.2:p.Asn682Asp
XM_005250570.1:c.2080A>G	XP_005250627.1:p.Asn694Asp
XM_005250572.1:c.2029A>G	XP_005250629.1:p.Asn677Asp
XM_005250573.1:c.2023A>G	XP_005250630.1:p.Asn675Asp
XM_005250574.1:c.2008A>G	XP_005250631.1:p.Asn670Asp
XM_006716118.1:c.2101A>G	XP_006716181.1:p.Asn701Asp
XM_006716119.2:c.2026A>G	XP_006716182.1:p.Asn676Asp
XM_006716120.2:c.1984A>G	XP_006716183.1:p.Asn662Asp
XM_006716121.2:c.511A>G	XP_006716184.1:p.Asn171Asp
XM_011516570.1:c.2101A>G	XP_011514872.1:p.Asn701Asp
XM_011516571.1:c.2086A>G	XP_011514873.1:p.Asn696Asp
XM_011516572.1:c.2065A>G	XP_011514874.1:p.Asn689Asp
XM_011516573.1:c.1870A>G	XP_011514875.1:p.Asn624Asp
NM_001366867.1:c.2080A>G	NP_001353796.1:p.Asn694Asp
XM_005250572.3:c.2029A>G	XP_005250629.1:p.Asn677Asp
XM_005250573.3:c.2023A>G	XP_005250630.1:p.Asn675Asp
XM_005250574.3:c.2008A>G	XP_005250631.1:p.Asn670Asp
XM_006716118.3:c.2101A>G	XP_006716181.1:p.Asn701Asp
XM_006716119.3:c.2026A>G	XP_006716182.1:p.Asn676Asp
XM_006716120.3:c.1984A>G	XP_006716183.1:p.Asn662Asp
XM_006716121.3:c.511A>G	XP_006716184.1:p.Asn171Asp
XM_011516570.3:c.2101A>G	XP_011514872.1:p.Asn701Asp
XM_011516571.3:c.2086A>G	XP_011514873.1:p.Asn696Asp
XM_011516572.3:c.2065A>G	XP_011514874.1:p.Asn689Asp
XM_017012588.1:c.1927A>G	XP_016868077.1:p.Asn643Asp
XR_001744873.2:n.2121A>G
XR_001744874.2:n.2028A>G
NM_000722.4:c.2044A>G MANE Select	NP_000713.2:p.Asn682Asp