Canonical Allele Identifier: CA1023990
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs760575933
ExAC: 1:116310981 G / A
gnomAD v2: 1-116310981-G-A
gnomAD v4: 1-115768360-G-A
COSMIC: COSM386105
MyVariant Identifiers: chr1:g.116310981G>A (hg19) chr1:g.115768360G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768360G>A , CM000663.2:g.115768360G>A GRCh38
NC_000001.10:g.116310981G>A , CM000663.1:g.116310981G>A GRCh37
NC_000001.9:g.116112504G>A NCBI36
NG_008802.1:g.5446C>T , LRG_404:g.5446C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-95C>T ENSP00000518226.1:n.-95C>T
ENST00000261448.6:c.182C>T MANE Select ENSP00000261448.5:p.Ser61Phe
ENST00000261448.5:c.182C>T ENSP00000261448.5:p.Ser61Phe
NM_001232.3:c.182C>T , LRG_404t1:c.182C>T NP_001223.2:p.Ser61Phe
NM_001232.4:c.182C>T MANE Select NP_001223.2:p.Ser61Phe
Search 100 bp 5'
Search 100 bp 3'