Canonical Allele Identifier: CA16611509
Gene: CACNA2D2 HGNC NCBI

Linked Data

ClinVar Variation Id: 411003
ClinVar RCV Id: RCV000465189
dbSNP Id: rs1060503108
MyVariant Identifiers: chr3:g.50425023_50425024del (hg19) chr3:g.50387592_50387593del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50387593_50387594del , CM000665.2:g.50387593_50387594del GRCh38
NC_000003.11:g.50425024_50425025del , CM000665.1:g.50425024_50425025del GRCh37
NC_000003.10:g.50400028_50400029del NCBI36
NG_034070.1:g.121652_121653del

Transcript Alleles

HGVS Amino-acid change
ENST00000424201.7:c.485_486del MANE Select ENSP00000390329.2:p.Tyr162Ter
ENST00000266039.7:c.485_486del ENSP00000266039.3:p.Tyr162Ter
ENST00000360963.7:c.278_279del ENSP00000354228.3:p.Tyr93Ter
ENST00000423994.6:c.485_486del ENSP00000407393.2:p.Tyr162Ter
ENST00000424201.6:c.485_486del ENSP00000390329.2:p.Tyr162Ter
ENST00000429770.5:c.485_486del ENSP00000404631.1:p.Tyr162Ter
ENST00000479441.1:c.485_486del ENSP00000418081.1:p.Tyr162Ter
NM_001005505.2:c.485_486del NP_001005505.1:p.Tyr162Ter
NM_001174051.2:c.485_486del NP_001167522.1:p.Tyr162Ter
NM_001291101.1:c.278_279del NP_001278030.1:p.Tyr93Ter
NM_006030.3:c.485_486del NP_006021.2:p.Tyr162Ter
XM_005265581.3:c.485_486del XP_005265638.1:p.Tyr162Ter
XM_011534242.1:c.485_486del XP_011532544.1:p.Tyr162Ter
XM_011534243.1:c.485_486del XP_011532545.1:p.Tyr162Ter
XM_011534244.1:c.485_486del XP_011532546.1:p.Tyr162Ter
XM_005265581.4:c.485_486del XP_005265638.1:p.Tyr162Ter
XM_011534243.2:c.485_486del XP_011532545.1:p.Tyr162Ter
NM_001005505.3:c.485_486del NP_001005505.1:p.Tyr162Ter
NM_001174051.3:c.485_486del NP_001167522.1:p.Tyr162Ter
NM_006030.4:c.485_486del MANE Select NP_006021.2:p.Tyr162Ter
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