Canonical Allele Identifier: CA411377421
Gene: CACNG2 HGNC NCBI

Linked Data

gnomAD v4: 22-36564747-C-T
MyVariant Identifiers: chr22:g.36960794C>T (hg19) chr22:g.36564747C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564747C>T , CM000684.2:g.36564747C>T GRCh38
NC_000022.10:g.36960794C>T , CM000684.1:g.36960794C>T GRCh37
NC_000022.9:g.35290740C>T NCBI36
NG_031861.1:g.142897G>A
NG_031861.2:g.143112G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.576G>A MANE Select ENSP00000300105.6:p.Met192Ile
ENST00000300105.6:c.576G>A ENSP00000300105.6:p.Met192Ile
NM_006078.3:c.576G>A NP_006069.1:p.Met192Ile
NM_006078.4:c.576G>A NP_006069.1:p.Met192Ile
XM_017028531.2:c.318G>A XP_016884020.1:p.Met106Ile
NM_001379051.1:c.507G>A NP_001365980.1:p.Met169Ile
NM_006078.5:c.576G>A MANE Select NP_006069.1:p.Met192Ile
NR_166440.1:n.1942G>A
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