Canonical Allele Identifier: CA10212143
Gene: CACNG2 HGNC NCBI

Linked Data

dbSNP Id: rs781032119
ExAC: 22:36960835 A / C
gnomAD v2: 22-36960835-A-C
gnomAD v4: 22-36564788-A-C
MyVariant Identifiers: chr22:g.36960835A>C (hg19) chr22:g.36564788A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564788A>C , CM000684.2:g.36564788A>C GRCh38
NC_000022.10:g.36960835A>C , CM000684.1:g.36960835A>C GRCh37
NC_000022.9:g.35290781A>C NCBI36
NG_031861.1:g.142856T>G
NG_031861.2:g.143071T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.535T>G MANE Select ENSP00000300105.6:p.Ser179Ala
ENST00000300105.6:c.535T>G ENSP00000300105.6:p.Ser179Ala
NM_006078.3:c.535T>G NP_006069.1:p.Ser179Ala
NM_006078.4:c.535T>G NP_006069.1:p.Ser179Ala
XM_017028531.2:c.277T>G XP_016884020.1:p.Ser93Ala
NM_001379051.1:c.466T>G NP_001365980.1:p.Ser156Ala
NM_006078.5:c.535T>G MANE Select NP_006069.1:p.Ser179Ala
NR_166440.1:n.1901T>G
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