Canonical Allele Identifier: CA411377468
Gene: CACNG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564756G>C , CM000684.2:g.36564756G>C GRCh38
NC_000022.10:g.36960803G>C , CM000684.1:g.36960803G>C GRCh37
NC_000022.9:g.35290749G>C NCBI36
NG_031861.1:g.142888C>G
NG_031861.2:g.143103C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.567C>G MANE Select ENSP00000300105.6:p.Ile189Met
ENST00000300105.6:c.567C>G ENSP00000300105.6:p.Ile189Met
NM_006078.3:c.567C>G NP_006069.1:p.Ile189Met
NM_006078.4:c.567C>G NP_006069.1:p.Ile189Met
XM_017028531.2:c.309C>G XP_016884020.1:p.Ile103Met
NM_001379051.1:c.498C>G NP_001365980.1:p.Ile166Met
NM_006078.5:c.567C>G MANE Select NP_006069.1:p.Ile189Met
NR_166440.1:n.1933C>G