Canonical Allele Identifier: CA411376862
Gene: CACNG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.36960718G>C (hg19) chr22:g.36564671G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564671G>C , CM000684.2:g.36564671G>C GRCh38
NC_000022.10:g.36960718G>C , CM000684.1:g.36960718G>C GRCh37
NC_000022.9:g.35290664G>C NCBI36
NG_031861.1:g.142973C>G
NG_031861.2:g.143188C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.652C>G MANE Select ENSP00000300105.6:p.Leu218Val
ENST00000300105.6:c.652C>G ENSP00000300105.6:p.Leu218Val
NM_006078.3:c.652C>G NP_006069.1:p.Leu218Val
NM_006078.4:c.652C>G NP_006069.1:p.Leu218Val
XM_017028531.2:c.394C>G XP_016884020.1:p.Leu132Val
NM_001379051.1:c.583C>G NP_001365980.1:p.Leu195Val
NM_006078.5:c.652C>G MANE Select NP_006069.1:p.Leu218Val
NR_166440.1:n.2018C>G
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