Canonical Allele Identifier: CA411376050
Gene: CACNG2 HGNC NCBI

Linked Data

gnomAD v4: 22-36564595-G-C
MyVariant Identifiers: chr22:g.36960642G>C (hg19) chr22:g.36564595G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564595G>C , CM000684.2:g.36564595G>C GRCh38
NC_000022.10:g.36960642G>C , CM000684.1:g.36960642G>C GRCh37
NC_000022.9:g.35290588G>C NCBI36
NG_031861.1:g.143049C>G
NG_031861.2:g.143264C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.728C>G MANE Select ENSP00000300105.6:p.Ser243Cys
ENST00000300105.6:c.728C>G ENSP00000300105.6:p.Ser243Cys
NM_006078.3:c.728C>G NP_006069.1:p.Ser243Cys
NM_006078.4:c.728C>G NP_006069.1:p.Ser243Cys
XM_017028531.2:c.470C>G XP_016884020.1:p.Ser157Cys
NM_001379051.1:c.659C>G NP_001365980.1:p.Ser220Cys
NM_006078.5:c.728C>G MANE Select NP_006069.1:p.Ser243Cys
NR_166440.1:n.2094C>G
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