Canonical Allele Identifier: CA10212126
Gene: CACNG2 HGNC NCBI

Linked Data

dbSNP Id: rs781121207
ExAC: 22:36960719 G / A
gnomAD v2: 22-36960719-G-A
gnomAD v4: 22-36564672-G-A
MyVariant Identifiers: chr22:g.36960719G>A (hg19) chr22:g.36564672G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564672G>A , CM000684.2:g.36564672G>A GRCh38
NC_000022.10:g.36960719G>A , CM000684.1:g.36960719G>A GRCh37
NC_000022.9:g.35290665G>A NCBI36
NG_031861.1:g.142972C>T
NG_031861.2:g.143187C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.651C>T MANE Select ENSP00000300105.6:p.Tyr217=
ENST00000300105.6:c.651C>T ENSP00000300105.6:p.Tyr217=
NM_006078.3:c.651C>T NP_006069.1:p.Tyr217=
NM_006078.4:c.651C>T NP_006069.1:p.Tyr217=
XM_017028531.2:c.393C>T XP_016884020.1:p.Tyr131=
NM_001379051.1:c.582C>T NP_001365980.1:p.Tyr194=
NM_006078.5:c.651C>T MANE Select NP_006069.1:p.Tyr217=
NR_166440.1:n.2017C>T
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