Canonical Allele Identifier: CA411376483
Gene: CACNG2 HGNC NCBI

Linked Data

gnomAD v4: 22-36564632-A-T
MyVariant Identifiers: chr22:g.36960679A>T (hg19) chr22:g.36564632A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564632A>T , CM000684.2:g.36564632A>T GRCh38
NC_000022.10:g.36960679A>T , CM000684.1:g.36960679A>T GRCh37
NC_000022.9:g.35290625A>T NCBI36
NG_031861.1:g.143012T>A
NG_031861.2:g.143227T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.691T>A MANE Select ENSP00000300105.6:p.Tyr231Asn
ENST00000300105.6:c.691T>A ENSP00000300105.6:p.Tyr231Asn
NM_006078.3:c.691T>A NP_006069.1:p.Tyr231Asn
NM_006078.4:c.691T>A NP_006069.1:p.Tyr231Asn
XM_017028531.2:c.433T>A XP_016884020.1:p.Tyr145Asn
NM_001379051.1:c.622T>A NP_001365980.1:p.Tyr208Asn
NM_006078.5:c.691T>A MANE Select NP_006069.1:p.Tyr231Asn
NR_166440.1:n.2057T>A
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