Canonical Allele Identifier: CA411377664
Gene: CACNG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 487807
ClinVar RCV Id: RCV000577842
dbSNP Id: rs1555892196
MyVariant Identifiers: chr22:g.36960829A>G (hg19) chr22:g.36564782A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564782A>G , CM000684.2:g.36564782A>G GRCh38
NC_000022.10:g.36960829A>G , CM000684.1:g.36960829A>G GRCh37
NC_000022.9:g.35290775A>G NCBI36
NG_031861.1:g.142862T>C
NG_031861.2:g.143077T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.541T>C MANE Select ENSP00000300105.6:p.Tyr181His
ENST00000300105.6:c.541T>C ENSP00000300105.6:p.Tyr181His
NM_006078.3:c.541T>C NP_006069.1:p.Tyr181His
NM_006078.4:c.541T>C NP_006069.1:p.Tyr181His
XM_017028531.2:c.283T>C XP_016884020.1:p.Tyr95His
NM_001379051.1:c.472T>C NP_001365980.1:p.Tyr158His
NM_006078.5:c.541T>C MANE Select NP_006069.1:p.Tyr181His
NR_166440.1:n.1907T>C
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