Canonical Allele Identifier: CA411376947
Gene: CACNG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564683C>A , CM000684.2:g.36564683C>A GRCh38
NC_000022.10:g.36960730C>A , CM000684.1:g.36960730C>A GRCh37
NC_000022.9:g.35290676C>A NCBI36
NG_031861.1:g.142961G>T
NG_031861.2:g.143176G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.640G>T MANE Select ENSP00000300105.6:p.Ala214Ser
ENST00000300105.6:c.640G>T ENSP00000300105.6:p.Ala214Ser
NM_006078.3:c.640G>T NP_006069.1:p.Ala214Ser
NM_006078.4:c.640G>T NP_006069.1:p.Ala214Ser
XM_017028531.2:c.382G>T XP_016884020.1:p.Ala128Ser
NM_001379051.1:c.571G>T NP_001365980.1:p.Ala191Ser
NM_006078.5:c.640G>T MANE Select NP_006069.1:p.Ala214Ser
NR_166440.1:n.2006G>T