Canonical Allele Identifier: CA514475070
Gene: CACNG2 HGNC NCBI

Linked Data

dbSNP Id: rs756630130
gnomAD v2: 22-36960638-C-T
gnomAD v4: 22-36564591-C-T
MyVariant Identifiers: chr22:g.36960638C>T (hg19) chr22:g.36564591C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564591C>T , CM000684.2:g.36564591C>T GRCh38
NC_000022.10:g.36960638C>T , CM000684.1:g.36960638C>T GRCh37
NC_000022.9:g.35290584C>T NCBI36
NG_031861.1:g.143053G>A
NG_031861.2:g.143268G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.732G>A MANE Select ENSP00000300105.6:p.Thr244=
ENST00000300105.6:c.732G>A ENSP00000300105.6:p.Thr244=
NM_006078.3:c.732G>A NP_006069.1:p.Thr244=
NM_006078.4:c.732G>A NP_006069.1:p.Thr244=
XM_017028531.2:c.474G>A XP_016884020.1:p.Thr158=
NM_001379051.1:c.663G>A NP_001365980.1:p.Thr221=
NM_006078.5:c.732G>A MANE Select NP_006069.1:p.Thr244=
NR_166440.1:n.2098G>A
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