Canonical Allele Identifier: CA411376905
Gene: CACNG2 HGNC NCBI

Linked Data

gnomAD v4: 22-36564679-G-T
MyVariant Identifiers: chr22:g.36960726G>T (hg19) chr22:g.36564679G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564679G>T , CM000684.2:g.36564679G>T GRCh38
NC_000022.10:g.36960726G>T , CM000684.1:g.36960726G>T GRCh37
NC_000022.9:g.35290672G>T NCBI36
NG_031861.1:g.142965C>A
NG_031861.2:g.143180C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.644C>A MANE Select ENSP00000300105.6:p.Thr215Lys
ENST00000300105.6:c.644C>A ENSP00000300105.6:p.Thr215Lys
NM_006078.3:c.644C>A NP_006069.1:p.Thr215Lys
NM_006078.4:c.644C>A NP_006069.1:p.Thr215Lys
XM_017028531.2:c.386C>A XP_016884020.1:p.Thr129Lys
NM_001379051.1:c.575C>A NP_001365980.1:p.Thr192Lys
NM_006078.5:c.644C>A MANE Select NP_006069.1:p.Thr215Lys
NR_166440.1:n.2010C>A
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