Canonical Allele Identifier: CA10212133
Gene: CACNG2 HGNC NCBI

Linked Data

dbSNP Id: rs761169033
ExAC: 22:36960733 G / T
gnomAD v2: 22-36960733-G-T
gnomAD v3: 22-36564686-G-T
gnomAD v4: 22-36564686-G-T
MyVariant Identifiers: chr22:g.36960733G>T (hg19) chr22:g.36564686G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564686G>T , CM000684.2:g.36564686G>T GRCh38
NC_000022.10:g.36960733G>T , CM000684.1:g.36960733G>T GRCh37
NC_000022.9:g.35290679G>T NCBI36
NG_031861.1:g.142958C>A
NG_031861.2:g.143173C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.637C>A MANE Select ENSP00000300105.6:p.Arg213Ser
ENST00000300105.6:c.637C>A ENSP00000300105.6:p.Arg213Ser
NM_006078.3:c.637C>A NP_006069.1:p.Arg213Ser
NM_006078.4:c.637C>A NP_006069.1:p.Arg213Ser
XM_017028531.2:c.379C>A XP_016884020.1:p.Arg127Ser
NM_001379051.1:c.568C>A NP_001365980.1:p.Arg190Ser
NM_006078.5:c.637C>A MANE Select NP_006069.1:p.Arg213Ser
NR_166440.1:n.2003C>A
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