Canonical Allele Identifier: CA16042479
Gene: CACNA2D2 HGNC NCBI

Linked Data

ClinVar Variation Id: 373439
ClinVar RCV Id: RCV000414100
dbSNP Id: rs1057518420
MyVariant Identifiers: chr3:g.50413137C>T (hg19) chr3:g.50375706C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50375706C>T , CM000665.2:g.50375706C>T GRCh38
NC_000003.11:g.50413137C>T , CM000665.1:g.50413137C>T GRCh37
NC_000003.10:g.50388141C>T NCBI36
NG_034070.1:g.133539G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000424201.7:c.1846-1G>A MANE Select ENSP00000390329.2:n.1846-1G>A
ENST00000266039.7:c.1846-1G>A ENSP00000266039.3:n.1846-1G>A
ENST00000360963.7:c.1639-1G>A ENSP00000354228.3:n.1639-1G>A
ENST00000423994.6:c.1846-1G>A ENSP00000407393.2:n.1846-1G>A
ENST00000424201.6:c.1846-1G>A ENSP00000390329.2:n.1846-1G>A
ENST00000429770.5:c.1846-1G>A ENSP00000404631.1:n.1846-1G>A
ENST00000479441.1:c.1846-1G>A ENSP00000418081.1:n.1846-1G>A
NM_001005505.2:c.1846-1G>A NP_001005505.1:n.1846-1G>A
NM_001174051.2:c.1846-1G>A NP_001167522.1:n.1846-1G>A
NM_001291101.1:c.1639-1G>A NP_001278030.1:n.1639-1G>A
NM_006030.3:c.1846-1G>A NP_006021.2:n.1846-1G>A
XM_005265581.3:c.1846-1G>A XP_005265638.1:n.1846-1G>A
XM_011534242.1:c.1846-1G>A XP_011532544.1:n.1846-1G>A
XM_011534243.1:c.1846-1G>A XP_011532545.1:n.1846-1G>A
XM_011534244.1:c.1846-1G>A XP_011532546.1:n.1846-1G>A
XM_005265581.4:c.1846-1G>A XP_005265638.1:n.1846-1G>A
XM_011534243.2:c.1846-1G>A XP_011532545.1:n.1846-1G>A
NM_001005505.3:c.1846-1G>A NP_001005505.1:n.1846-1G>A
NM_001174051.3:c.1846-1G>A NP_001167522.1:n.1846-1G>A
NM_006030.4:c.1846-1G>A MANE Select NP_006021.2:n.1846-1G>A
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