Canonical Allele Identifier: CA411377034
Gene: CACNG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564701G>T , CM000684.2:g.36564701G>T GRCh38
NC_000022.10:g.36960748G>T , CM000684.1:g.36960748G>T GRCh37
NC_000022.9:g.35290694G>T NCBI36
NG_031861.1:g.142943C>A
NG_031861.2:g.143158C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.622C>A MANE Select ENSP00000300105.6:p.Leu208Met
ENST00000300105.6:c.622C>A ENSP00000300105.6:p.Leu208Met
NM_006078.3:c.622C>A NP_006069.1:p.Leu208Met
NM_006078.4:c.622C>A NP_006069.1:p.Leu208Met
XM_017028531.2:c.364C>A XP_016884020.1:p.Leu122Met
NM_001379051.1:c.553C>A NP_001365980.1:p.Leu185Met
NM_006078.5:c.622C>A MANE Select NP_006069.1:p.Leu208Met
NR_166440.1:n.1988C>A