Canonical Allele Identifier: CA10212151
Gene: CACNG2 HGNC NCBI

Linked Data

dbSNP Id: rs771598194
ExAC: 22:36960891 T / C
gnomAD v2: 22-36960891-T-C
gnomAD v4: 22-36564844-T-C
MyVariant Identifiers: chr22:g.36960891T>C (hg19) chr22:g.36564844T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564844T>C , CM000684.2:g.36564844T>C GRCh38
NC_000022.10:g.36960891T>C , CM000684.1:g.36960891T>C GRCh37
NC_000022.9:g.35290837T>C NCBI36
NG_031861.1:g.142800A>G
NG_031861.2:g.143015A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.479A>G MANE Select ENSP00000300105.6:p.Asn160Ser
ENST00000300105.6:c.479A>G ENSP00000300105.6:p.Asn160Ser
NM_006078.3:c.479A>G NP_006069.1:p.Asn160Ser
NM_006078.4:c.479A>G NP_006069.1:p.Asn160Ser
XM_017028531.2:c.221A>G XP_016884020.1:p.Asn74Ser
NM_001379051.1:c.410A>G NP_001365980.1:p.Asn137Ser
NM_006078.5:c.479A>G MANE Select NP_006069.1:p.Asn160Ser
NR_166440.1:n.1845A>G
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