Canonical Allele Identifier: CA411377461
Gene: CACNG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564754G>T , CM000684.2:g.36564754G>T GRCh38
NC_000022.10:g.36960801G>T , CM000684.1:g.36960801G>T GRCh37
NC_000022.9:g.35290747G>T NCBI36
NG_031861.1:g.142890C>A
NG_031861.2:g.143105C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.569C>A MANE Select ENSP00000300105.6:p.Ala190Asp
ENST00000300105.6:c.569C>A ENSP00000300105.6:p.Ala190Asp
NM_006078.3:c.569C>A NP_006069.1:p.Ala190Asp
NM_006078.4:c.569C>A NP_006069.1:p.Ala190Asp
XM_017028531.2:c.311C>A XP_016884020.1:p.Ala104Asp
NM_001379051.1:c.500C>A NP_001365980.1:p.Ala167Asp
NM_006078.5:c.569C>A MANE Select NP_006069.1:p.Ala190Asp
NR_166440.1:n.1935C>A