Canonical Allele Identifier: CA411377937
Gene: CACNG2 HGNC NCBI

Linked Data

gnomAD v4: 22-36564809-T-G
MyVariant Identifiers: chr22:g.36960856T>G (hg19) chr22:g.36564809T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564809T>G , CM000684.2:g.36564809T>G GRCh38
NC_000022.10:g.36960856T>G , CM000684.1:g.36960856T>G GRCh37
NC_000022.9:g.35290802T>G NCBI36
NG_031861.1:g.142835A>C
NG_031861.2:g.143050A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.514A>C MANE Select ENSP00000300105.6:p.Asn172His
ENST00000300105.6:c.514A>C ENSP00000300105.6:p.Asn172His
NM_006078.3:c.514A>C NP_006069.1:p.Asn172His
NM_006078.4:c.514A>C NP_006069.1:p.Asn172His
XM_017028531.2:c.256A>C XP_016884020.1:p.Asn86His
NM_001379051.1:c.445A>C NP_001365980.1:p.Asn149His
NM_006078.5:c.514A>C MANE Select NP_006069.1:p.Asn172His
NR_166440.1:n.1880A>C
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