Canonical Allele Identifier: CA411377396
Gene: CACNG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564745A>G , CM000684.2:g.36564745A>G GRCh38
NC_000022.10:g.36960792A>G , CM000684.1:g.36960792A>G GRCh37
NC_000022.9:g.35290738A>G NCBI36
NG_031861.1:g.142899T>C
NG_031861.2:g.143114T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.578T>C MANE Select ENSP00000300105.6:p.Val193Ala
ENST00000300105.6:c.578T>C ENSP00000300105.6:p.Val193Ala
NM_006078.3:c.578T>C NP_006069.1:p.Val193Ala
NM_006078.4:c.578T>C NP_006069.1:p.Val193Ala
XM_017028531.2:c.320T>C XP_016884020.1:p.Val107Ala
NM_001379051.1:c.509T>C NP_001365980.1:p.Val170Ala
NM_006078.5:c.578T>C MANE Select NP_006069.1:p.Val193Ala
NR_166440.1:n.1944T>C