Canonical Allele Identifier: CA10212122
Gene: CACNG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1701665
ClinVar RCV Id: RCV002275593
dbSNP Id: rs758357916
ExAC: 22:36960701 G / C
gnomAD v2: 22-36960701-G-C
gnomAD v4: 22-36564654-G-C
MyVariant Identifiers: chr22:g.36960701G>C (hg19) chr22:g.36564654G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564654G>C , CM000684.2:g.36564654G>C GRCh38
NC_000022.10:g.36960701G>C , CM000684.1:g.36960701G>C GRCh37
NC_000022.9:g.35290647G>C NCBI36
NG_031861.1:g.142990C>G
NG_031861.2:g.143205C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.669C>G MANE Select ENSP00000300105.6:p.Ile223Met
ENST00000300105.6:c.669C>G ENSP00000300105.6:p.Ile223Met
NM_006078.3:c.669C>G NP_006069.1:p.Ile223Met
NM_006078.4:c.669C>G NP_006069.1:p.Ile223Met
XM_017028531.2:c.411C>G XP_016884020.1:p.Ile137Met
NM_001379051.1:c.600C>G NP_001365980.1:p.Ile200Met
NM_006078.5:c.669C>G MANE Select NP_006069.1:p.Ile223Met
NR_166440.1:n.2035C>G
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