Canonical Allele Identifier: CA411378027
Gene: CACNG2 HGNC NCBI

Linked Data

gnomAD v4: 22-36564821-C-T
MyVariant Identifiers: chr22:g.36960868C>T (hg19) chr22:g.36564821C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564821C>T , CM000684.2:g.36564821C>T GRCh38
NC_000022.10:g.36960868C>T , CM000684.1:g.36960868C>T GRCh37
NC_000022.9:g.35290814C>T NCBI36
NG_031861.1:g.142823G>A
NG_031861.2:g.143038G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.502G>A MANE Select ENSP00000300105.6:p.Asp168Asn
ENST00000300105.6:c.502G>A ENSP00000300105.6:p.Asp168Asn
NM_006078.3:c.502G>A NP_006069.1:p.Asp168Asn
NM_006078.4:c.502G>A NP_006069.1:p.Asp168Asn
XM_017028531.2:c.244G>A XP_016884020.1:p.Asp82Asn
NM_001379051.1:c.433G>A NP_001365980.1:p.Asp145Asn
NM_006078.5:c.502G>A MANE Select NP_006069.1:p.Asp168Asn
NR_166440.1:n.1868G>A
Search 100 bp 5'
Search 100 bp 3'