Canonical Allele Identifier: CA411375982
Gene: CACNG2 HGNC NCBI

Linked Data

gnomAD v4: 22-36564584-A-G
MyVariant Identifiers: chr22:g.36960631A>G (hg19) chr22:g.36564584A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564584A>G , CM000684.2:g.36564584A>G GRCh38
NC_000022.10:g.36960631A>G , CM000684.1:g.36960631A>G GRCh37
NC_000022.9:g.35290577A>G NCBI36
NG_031861.1:g.143060T>C
NG_031861.2:g.143275T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.739T>C MANE Select ENSP00000300105.6:p.Ser247Pro
ENST00000300105.6:c.739T>C ENSP00000300105.6:p.Ser247Pro
NM_006078.3:c.739T>C NP_006069.1:p.Ser247Pro
NM_006078.4:c.739T>C NP_006069.1:p.Ser247Pro
XM_017028531.2:c.481T>C XP_016884020.1:p.Ser161Pro
NM_001379051.1:c.670T>C NP_001365980.1:p.Ser224Pro
NM_006078.5:c.739T>C MANE Select NP_006069.1:p.Ser247Pro
NR_166440.1:n.2105T>C
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