Canonical Allele Identifier: CA2419308
Gene: CACNA2D2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.50503264G>A
GRCh37 chr3:g.50540695G>A
Revel Score:
ENST00000423994 0.056
ENST00000429770 0.056
ENST00000266039 0.056
ENST00000435965 0.056
ENST00000395083 0.056
ENST00000424201 (MANE Select) 0.056
ENST00000479441 0.056
gnomAD v2:
3:50540695 G / A
gnomAD v3:
3:50503264 G / A
gnomAD v4:
chr3-50503264-G-A
Joint Max Group AF 0.08027085 (AFR)
Genomes Max Group AF 0.08024414 (AFR)
Exomes Max Group AF 0.0781649 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50503264G>A , CM000665.2:g.50503264G>A GRCh38
NC_000003.11:g.50540695G>A , CM000665.1:g.50540695G>A GRCh37
NC_000003.10:g.50515699G>A NCBI36
NG_034070.1:g.5981C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000424201.7:c.160C>T MANE Select ENSP00000390329.2:p.Leu54Phe
ENST00000266039.7:c.160C>T ENSP00000266039.3:p.Leu54Phe
ENST00000360963.7:c.-2+805C>T ENSP00000354228.3:n.-2+805C>T
ENST00000423994.6:c.160C>T ENSP00000407393.2:p.Leu54Phe
ENST00000424201.6:c.160C>T ENSP00000390329.2:p.Leu54Phe
ENST00000429770.5:c.160C>T ENSP00000404631.1:p.Leu54Phe
ENST00000479441.1:c.160C>T ENSP00000418081.1:p.Leu54Phe
ENST00000487413.1:n.371C>T
NM_001005505.2:c.160C>T NP_001005505.1:p.Leu54Phe
NM_001174051.2:c.160C>T NP_001167522.1:p.Leu54Phe
NM_001291101.1:c.-2+805C>T NP_001278030.1:n.-2+805C>T
NM_006030.3:c.160C>T NP_006021.2:p.Leu54Phe
XM_005265581.3:c.160C>T XP_005265638.1:p.Leu54Phe
XM_011534242.1:c.160C>T XP_011532544.1:p.Leu54Phe
XM_011534243.1:c.160C>T XP_011532545.1:p.Leu54Phe
XM_011534244.1:c.160C>T XP_011532546.1:p.Leu54Phe
XM_005265581.4:c.160C>T XP_005265638.1:p.Leu54Phe
XM_011534243.2:c.160C>T XP_011532545.1:p.Leu54Phe
NM_001005505.3:c.160C>T NP_001005505.1:p.Leu54Phe
NM_001174051.3:c.160C>T NP_001167522.1:p.Leu54Phe
NM_006030.4:c.160C>T MANE Select NP_006021.2:p.Leu54Phe
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