Canonical Allele Identifier: CA2499216921
Gene: CACNA2D2 HGNC NCBI
CYB561D2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50364675_50364684del , CM000665.2:g.50364675_50364684del GRCh38
NC_000003.11:g.50402106_50402115del , CM000665.1:g.50402106_50402115del GRCh37
NC_000003.10:g.50377110_50377119del NCBI36
NG_034070.1:g.144568_144577del

Transcript Alleles

HGVS Amino-acid Change
NM_006030.4:c.3421_3430del (CACNA2D2) MANE Select NP_006021.2:p.Arg1141GlufsTer29
ENST00000424201.7:c.3421_3430del (CACNA2D2) MANE Select ENSP00000390329.2:p.Arg1141GlufsTer29
NM_001005505.2:c.3427_3436del (CACNA2D2) NP_001005505.1:p.Arg1143GlufsTer29
NM_001005505.3:c.3427_3436del (CACNA2D2) NP_001005505.1:p.Arg1143GlufsTer29
NM_001174051.2:c.3442_3451del (CACNA2D2) NP_001167522.1:p.Arg1148GlufsTer29
NM_001174051.3:c.3442_3451del (CACNA2D2) NP_001167522.1:p.Arg1148GlufsTer29
NM_001291101.1:c.3220_3229del (CACNA2D2) NP_001278030.1:p.Arg1074GlufsTer29
NM_006030.3:c.3421_3430del (CACNA2D2) NP_006021.2:p.Arg1141GlufsTer29
NR_111912.1:n.443-1622_443-1613del (CYB561D2)
NR_111912.2:n.276-1622_276-1613del (CYB561D2)
ENST00000266039.7:c.3427_3436del (CACNA2D2) ENSP00000266039.3:p.Arg1143GlufsTer29
ENST00000360963.7:c.3220_3229del (CACNA2D2) ENSP00000354228.3:p.Arg1074GlufsTer29
ENST00000423994.6:c.3451_3460del (CACNA2D2) ENSP00000407393.2:p.Arg1151GlufsTer29
ENST00000424201.6:c.3421_3430del (CACNA2D2) ENSP00000390329.2:p.Arg1141GlufsTer29
ENST00000429770.5:c.3424_3433del (CACNA2D2) ENSP00000404631.1:p.Arg1142GlufsTer29
ENST00000479441.1:c.3442_3451del (CACNA2D2) ENSP00000418081.1:p.Arg1148=
ENST00000483620.1:n.704_713del (CACNA2D2)
ENST00000606589.1:c.128-1622_128-1613del ENSP00000476225.1:n.128-1622_128-1613del
XM_005265581.3:c.3424_3433del (CACNA2D2) XP_005265638.1:p.Arg1142GlufsTer29
XM_005265581.4:c.3424_3433del (CACNA2D2) XP_005265638.1:p.Arg1142GlufsTer29
XM_011534242.1:c.3451_3460del (CACNA2D2) XP_011532544.1:p.Arg1151GlufsTer29
XM_011534243.1:c.3445_3454del (CACNA2D2) XP_011532545.1:p.Arg1149GlufsTer29
XM_011534243.2:c.3445_3454del (CACNA2D2) XP_011532545.1:p.Arg1149GlufsTer29
XM_011534244.1:c.3430_3439del (CACNA2D2) XP_011532546.1:p.Arg1144GlufsTer29