Canonical Allele Identifier: CA411378315
Gene: CACNG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564851A>G , CM000684.2:g.36564851A>G GRCh38
NC_000022.10:g.36960898A>G , CM000684.1:g.36960898A>G GRCh37
NC_000022.9:g.35290844A>G NCBI36
NG_031861.1:g.142793T>C
NG_031861.2:g.143008T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.472T>C MANE Select ENSP00000300105.6:p.Ser158Pro
ENST00000300105.6:c.472T>C ENSP00000300105.6:p.Ser158Pro
NM_006078.3:c.472T>C NP_006069.1:p.Ser158Pro
NM_006078.4:c.472T>C NP_006069.1:p.Ser158Pro
XM_017028531.2:c.214T>C XP_016884020.1:p.Ser72Pro
NM_001379051.1:c.403T>C NP_001365980.1:p.Ser135Pro
NM_006078.5:c.472T>C MANE Select NP_006069.1:p.Ser158Pro
NR_166440.1:n.1838T>C