Canonical Allele Identifier: CA514475173
Gene: CACNG2 HGNC NCBI

Linked Data

dbSNP Id: rs201512121
gnomAD v2: 22-36960725-C-G
gnomAD v4: 22-36564678-C-G
MyVariant Identifiers: chr22:g.36960725C>G (hg19) chr22:g.36564678C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564678C>G , CM000684.2:g.36564678C>G GRCh38
NC_000022.10:g.36960725C>G , CM000684.1:g.36960725C>G GRCh37
NC_000022.9:g.35290671C>G NCBI36
NG_031861.1:g.142966G>C
NG_031861.2:g.143181G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.645G>C MANE Select ENSP00000300105.6:p.Thr215=
ENST00000300105.6:c.645G>C ENSP00000300105.6:p.Thr215=
NM_006078.3:c.645G>C NP_006069.1:p.Thr215=
NM_006078.4:c.645G>C NP_006069.1:p.Thr215=
XM_017028531.2:c.387G>C XP_016884020.1:p.Thr129=
NM_001379051.1:c.576G>C NP_001365980.1:p.Thr192=
NM_006078.5:c.645G>C MANE Select NP_006069.1:p.Thr215=
NR_166440.1:n.2011G>C
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