Canonical Allele Identifier: CA2419247
Gene: CACNA2D2 HGNC NCBI

Linked Data

ClinVar Variation Id: 411004
ClinVar RCV Id: RCV000473332
dbSNP Id: rs552824990
gnomAD v2: 3-50471785-C-A
gnomAD v3: 3-50434354-C-A
gnomAD v4: 3-50434354-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50434354C>A , CM000665.2:g.50434354C>A GRCh38
NC_000003.11:g.50471785C>A , CM000665.1:g.50471785C>A GRCh37
NC_000003.10:g.50446789C>A NCBI36
NG_034070.1:g.74891G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000424201.7:c.364G>T MANE Select ENSP00000390329.2:p.Asp122Tyr
ENST00000266039.7:c.364G>T ENSP00000266039.3:p.Asp122Tyr
ENST00000360963.7:c.157G>T ENSP00000354228.3:p.Asp53Tyr
ENST00000423994.6:c.364G>T ENSP00000407393.2:p.Asp122Tyr
ENST00000424201.6:c.364G>T ENSP00000390329.2:p.Asp122Tyr
ENST00000429770.5:c.364G>T ENSP00000404631.1:p.Asp122Tyr
ENST00000479441.1:c.364G>T ENSP00000418081.1:p.Asp122Tyr
ENST00000487413.1:n.575G>T
NM_001005505.2:c.364G>T NP_001005505.1:p.Asp122Tyr
NM_001174051.2:c.364G>T NP_001167522.1:p.Asp122Tyr
NM_001291101.1:c.157G>T NP_001278030.1:p.Asp53Tyr
NM_006030.3:c.364G>T NP_006021.2:p.Asp122Tyr
XM_005265581.3:c.364G>T XP_005265638.1:p.Asp122Tyr
XM_011534242.1:c.364G>T XP_011532544.1:p.Asp122Tyr
XM_011534243.1:c.364G>T XP_011532545.1:p.Asp122Tyr
XM_011534244.1:c.364G>T XP_011532546.1:p.Asp122Tyr
XM_005265581.4:c.364G>T XP_005265638.1:p.Asp122Tyr
XM_011534243.2:c.364G>T XP_011532545.1:p.Asp122Tyr
NM_001005505.3:c.364G>T NP_001005505.1:p.Asp122Tyr
NM_001174051.3:c.364G>T NP_001167522.1:p.Asp122Tyr
NM_006030.4:c.364G>T MANE Select NP_006021.2:p.Asp122Tyr