Canonical Allele Identifier: CA411376358
Gene: CACNG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564621C>A , CM000684.2:g.36564621C>A GRCh38
NC_000022.10:g.36960668C>A , CM000684.1:g.36960668C>A GRCh37
NC_000022.9:g.35290614C>A NCBI36
NG_031861.1:g.143023G>T
NG_031861.2:g.143238G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.702G>T MANE Select ENSP00000300105.6:p.Gln234His
ENST00000300105.6:c.702G>T ENSP00000300105.6:p.Gln234His
NM_006078.3:c.702G>T NP_006069.1:p.Gln234His
NM_006078.4:c.702G>T NP_006069.1:p.Gln234His
XM_017028531.2:c.444G>T XP_016884020.1:p.Gln148His
NM_001379051.1:c.633G>T NP_001365980.1:p.Gln211His
NM_006078.5:c.702G>T MANE Select NP_006069.1:p.Gln234His
NR_166440.1:n.2068G>T