Canonical Allele Identifier: CA10212136
Gene: CACNG2 HGNC NCBI

Linked Data

dbSNP Id: rs759775990
ExAC: 22:36960744 C / T
gnomAD v2: 22-36960744-C-T
gnomAD v4: 22-36564697-C-T
MyVariant Identifiers: chr22:g.36960744C>T (hg19) chr22:g.36564697C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564697C>T , CM000684.2:g.36564697C>T GRCh38
NC_000022.10:g.36960744C>T , CM000684.1:g.36960744C>T GRCh37
NC_000022.9:g.35290690C>T NCBI36
NG_031861.1:g.142947G>A
NG_031861.2:g.143162G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.626G>A MANE Select ENSP00000300105.6:p.Arg209Gln
ENST00000300105.6:c.626G>A ENSP00000300105.6:p.Arg209Gln
NM_006078.3:c.626G>A NP_006069.1:p.Arg209Gln
NM_006078.4:c.626G>A NP_006069.1:p.Arg209Gln
XM_017028531.2:c.368G>A XP_016884020.1:p.Arg123Gln
NM_001379051.1:c.557G>A NP_001365980.1:p.Arg186Gln
NM_006078.5:c.626G>A MANE Select NP_006069.1:p.Arg209Gln
NR_166440.1:n.1992G>A
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