Canonical Allele Identifier: CA411378152
Gene: CACNG2 HGNC NCBI

Linked Data

dbSNP Id: rs1321307400
gnomAD v2: 22-36960881-G-T
gnomAD v3: 22-36564834-G-T
gnomAD v4: 22-36564834-G-T
MyVariant Identifiers: chr22:g.36960881G>T (hg19) chr22:g.36564834G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564834G>T , CM000684.2:g.36564834G>T GRCh38
NC_000022.10:g.36960881G>T , CM000684.1:g.36960881G>T GRCh37
NC_000022.9:g.35290827G>T NCBI36
NG_031861.1:g.142810C>A
NG_031861.2:g.143025C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.489C>A MANE Select ENSP00000300105.6:p.Asp163Glu
ENST00000300105.6:c.489C>A ENSP00000300105.6:p.Asp163Glu
NM_006078.3:c.489C>A NP_006069.1:p.Asp163Glu
NM_006078.4:c.489C>A NP_006069.1:p.Asp163Glu
XM_017028531.2:c.231C>A XP_016884020.1:p.Asp77Glu
NM_001379051.1:c.420C>A NP_001365980.1:p.Asp140Glu
NM_006078.5:c.489C>A MANE Select NP_006069.1:p.Asp163Glu
NR_166440.1:n.1855C>A
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