Canonical Allele Identifier: CA514475076
Gene: CACNG2 HGNC NCBI

Linked Data

dbSNP Id: rs535062605
gnomAD v4: 22-36564798-T-G
MyVariant Identifiers: chr22:g.36960845T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564798T>G , CM000684.2:g.36564798T>G GRCh38
NC_000022.10:g.36960845T>G , CM000684.1:g.36960845T>G GRCh37
NC_000022.9:g.35290791T>G NCBI36
NG_031861.1:g.142846A>C
NG_031861.2:g.143061A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.525A>C MANE Select ENSP00000300105.6:p.Ser175=
ENST00000300105.6:c.525A>C ENSP00000300105.6:p.Ser175=
NM_006078.3:c.525A>C NP_006069.1:p.Ser175=
NM_006078.4:c.525A>C NP_006069.1:p.Ser175=
XM_017028531.2:c.267A>C XP_016884020.1:p.Ser89=
NM_001379051.1:c.456A>C NP_001365980.1:p.Ser152=
NM_006078.5:c.525A>C MANE Select NP_006069.1:p.Ser175=
NR_166440.1:n.1891A>C
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