Canonical Allele Identifier: CA29625133
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs746050220
gnomAD v2: 1-116310980-A-G
gnomAD v4: 1-115768359-A-G
COSMIC: COSM3471838
MyVariant Identifiers: chr1:g.116310980A>G (hg19) chr1:g.115768359A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768359A>G , CM000663.2:g.115768359A>G GRCh38
NC_000001.10:g.116310980A>G , CM000663.1:g.116310980A>G GRCh37
NC_000001.9:g.116112503A>G NCBI36
NG_008802.1:g.5447T>C , LRG_404:g.5447T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-94T>C ENSP00000518226.1:n.-94T>C
ENST00000261448.6:c.183T>C MANE Select ENSP00000261448.5:p.Ser61=
ENST00000261448.5:c.183T>C ENSP00000261448.5:p.Ser61=
NM_001232.3:c.183T>C , LRG_404t1:c.183T>C NP_001223.2:p.Ser61=
NM_001232.4:c.183T>C MANE Select NP_001223.2:p.Ser61=
Search 100 bp 5'
Search 100 bp 3'