Canonical Allele Identifier: CA411378037
Gene: CACNG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3136510
ClinVar RCV Id: RCV004432375
dbSNP Id: rs1164294842
gnomAD v2: 22-36960870-C-T
gnomAD v4: 22-36564823-C-T
MyVariant Identifiers: chr22:g.36960870C>T (hg19) chr22:g.36564823C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36564823C>T , CM000684.2:g.36564823C>T GRCh38
NC_000022.10:g.36960870C>T , CM000684.1:g.36960870C>T GRCh37
NC_000022.9:g.35290816C>T NCBI36
NG_031861.1:g.142821G>A
NG_031861.2:g.143036G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.500G>A MANE Select ENSP00000300105.6:p.Ser167Asn
ENST00000300105.6:c.500G>A ENSP00000300105.6:p.Ser167Asn
NM_006078.3:c.500G>A NP_006069.1:p.Ser167Asn
NM_006078.4:c.500G>A NP_006069.1:p.Ser167Asn
XM_017028531.2:c.242G>A XP_016884020.1:p.Ser81Asn
NM_001379051.1:c.431G>A NP_001365980.1:p.Ser144Asn
NM_006078.5:c.500G>A MANE Select NP_006069.1:p.Ser167Asn
NR_166440.1:n.1866G>A
Search 100 bp 5'
Search 100 bp 3'