Canonical Allele Identifier: CA514475207
Gene: CACNG2 HGNC NCBI

Linked Data

dbSNP Id: rs1438259357
gnomAD v4: 22-36564713-G-T
MyVariant Identifiers: chr22:g.36960760G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564713G>T , CM000684.2:g.36564713G>T GRCh38
NC_000022.10:g.36960760G>T , CM000684.1:g.36960760G>T GRCh37
NC_000022.9:g.35290706G>T NCBI36
NG_031861.1:g.142931C>A
NG_031861.2:g.143146C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.610C>A MANE Select ENSP00000300105.6:p.Arg204=
ENST00000300105.6:c.610C>A ENSP00000300105.6:p.Arg204=
NM_006078.3:c.610C>A NP_006069.1:p.Arg204=
NM_006078.4:c.610C>A NP_006069.1:p.Arg204=
XM_017028531.2:c.352C>A XP_016884020.1:p.Arg118=
NM_001379051.1:c.541C>A NP_001365980.1:p.Arg181=
NM_006078.5:c.610C>A MANE Select NP_006069.1:p.Arg204=
NR_166440.1:n.1976C>A
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