Canonical Allele Identifier: CA323997782
Gene: CACNG2 HGNC NCBI

Linked Data

dbSNP Id: rs113130432
MyVariant Identifiers: chr22:g.36960824G>C (hg19) chr22:g.36564777G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564777G>C , CM000684.2:g.36564777G>C GRCh38
NC_000022.10:g.36960824G>C , CM000684.1:g.36960824G>C GRCh37
NC_000022.9:g.35290770G>C NCBI36
NG_031861.1:g.142867C>G
NG_031861.2:g.143082C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.546C>G MANE Select ENSP00000300105.6:p.Phe182Leu
ENST00000300105.6:c.546C>G ENSP00000300105.6:p.Phe182Leu
NM_006078.3:c.546C>G NP_006069.1:p.Phe182Leu
NM_006078.4:c.546C>G NP_006069.1:p.Phe182Leu
XM_017028531.2:c.288C>G XP_016884020.1:p.Phe96Leu
NM_001379051.1:c.477C>G NP_001365980.1:p.Phe159Leu
NM_006078.5:c.546C>G MANE Select NP_006069.1:p.Phe182Leu
NR_166440.1:n.1912C>G
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