Canonical Allele Identifier: CA411378577
Gene: CACNG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.36960931G>T (hg19) chr22:g.36564884G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564884G>T , CM000684.2:g.36564884G>T GRCh38
NC_000022.10:g.36960931G>T , CM000684.1:g.36960931G>T GRCh37
NC_000022.9:g.35290877G>T NCBI36
NG_031861.1:g.142760C>A
NG_031861.2:g.142975C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.439C>A MANE Select ENSP00000300105.6:p.Leu147Met
ENST00000300105.6:c.439C>A ENSP00000300105.6:p.Leu147Met
NM_006078.3:c.439C>A NP_006069.1:p.Leu147Met
NM_006078.4:c.439C>A NP_006069.1:p.Leu147Met
XM_017028531.2:c.181C>A XP_016884020.1:p.Leu61Met
NM_001379051.1:c.370C>A NP_001365980.1:p.Leu124Met
NM_006078.5:c.439C>A MANE Select NP_006069.1:p.Leu147Met
NR_166440.1:n.1805C>A
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