Canonical Allele Identifier: CA411377159
Gene: CACNG2 HGNC NCBI

Linked Data

gnomAD v4: 22-36564716-C-G
MyVariant Identifiers: chr22:g.36960763C>G (hg19) chr22:g.36564716C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564716C>G , CM000684.2:g.36564716C>G GRCh38
NC_000022.10:g.36960763C>G , CM000684.1:g.36960763C>G GRCh37
NC_000022.9:g.35290709C>G NCBI36
NG_031861.1:g.142928G>C
NG_031861.2:g.143143G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.607G>C MANE Select ENSP00000300105.6:p.Asp203His
ENST00000300105.6:c.607G>C ENSP00000300105.6:p.Asp203His
NM_006078.3:c.607G>C NP_006069.1:p.Asp203His
NM_006078.4:c.607G>C NP_006069.1:p.Asp203His
XM_017028531.2:c.349G>C XP_016884020.1:p.Asp117His
NM_001379051.1:c.538G>C NP_001365980.1:p.Asp180His
NM_006078.5:c.607G>C MANE Select NP_006069.1:p.Asp203His
NR_166440.1:n.1973G>C
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