Canonical Allele Identifier: CA367892628
Gene: CACNA2D1 HGNC NCBI

Linked Data

dbSNP Id: rs1795620137

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.81974487A>C , CM000669.2:g.81974487A>C GRCh38
NC_000007.13:g.81603803A>C , CM000669.1:g.81603803A>C GRCh37
NC_000007.12:g.81441739A>C NCBI36
NG_009358.2:g.474229T>G , LRG_437:g.474229T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000443883.2:c.2057T>G ENSP00000409374.2:p.Phe686Cys
ENST00000705961.1:c.1788T>G
ENST00000705962.1:c.1901T>G ENSP00000516190.1:p.Phe634Cys
ENST00000356860.8:c.2021T>G MANE Select ENSP00000349320.3:p.Phe674Cys
ENST00000356253.9:c.2057T>G ENSP00000348589.5:p.Phe686Cys
ENST00000356860.7:c.2021T>G ENSP00000349320.3:p.Phe674Cys
ENST00000443883.1:c.553T>G
NM_000722.3:c.2021T>G NP_000713.2:p.Phe674Cys
XM_005250570.1:c.2057T>G XP_005250627.1:p.Phe686Cys
XM_005250572.1:c.2006T>G XP_005250629.1:p.Phe669Cys
XM_005250573.1:c.2000T>G XP_005250630.1:p.Phe667Cys
XM_005250574.1:c.1985T>G XP_005250631.1:p.Phe662Cys
XM_006716118.1:c.2078T>G XP_006716181.1:p.Phe693Cys
XM_006716119.2:c.2003T>G XP_006716182.1:p.Phe668Cys
XM_006716120.2:c.1961T>G XP_006716183.1:p.Phe654Cys
XM_006716121.2:c.488T>G XP_006716184.1:p.Phe163Cys
XM_011516570.1:c.2078T>G XP_011514872.1:p.Phe693Cys
XM_011516571.1:c.2063T>G XP_011514873.1:p.Phe688Cys
XM_011516572.1:c.2042T>G XP_011514874.1:p.Phe681Cys
XM_011516573.1:c.1847T>G XP_011514875.1:p.Phe616Cys
NM_001366867.1:c.2057T>G NP_001353796.1:p.Phe686Cys
XM_005250572.3:c.2006T>G XP_005250629.1:p.Phe669Cys
XM_005250573.3:c.2000T>G XP_005250630.1:p.Phe667Cys
XM_005250574.3:c.1985T>G XP_005250631.1:p.Phe662Cys
XM_006716118.3:c.2078T>G XP_006716181.1:p.Phe693Cys
XM_006716119.3:c.2003T>G XP_006716182.1:p.Phe668Cys
XM_006716120.3:c.1961T>G XP_006716183.1:p.Phe654Cys
XM_006716121.3:c.488T>G XP_006716184.1:p.Phe163Cys
XM_011516570.3:c.2078T>G XP_011514872.1:p.Phe693Cys
XM_011516571.3:c.2063T>G XP_011514873.1:p.Phe688Cys
XM_011516572.3:c.2042T>G XP_011514874.1:p.Phe681Cys
XM_017012588.1:c.1904T>G XP_016868077.1:p.Phe635Cys
XR_001744873.2:n.2098T>G
XR_001744874.2:n.2005T>G
NM_000722.4:c.2021T>G MANE Select NP_000713.2:p.Phe674Cys