Canonical Allele Identifier: CA341767003
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs749547074
gnomAD v4: 1-115768329-T-A
MyVariant Identifiers: chr1:g.116310950T>A (hg19) chr1:g.115768329T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768329T>A , CM000663.2:g.115768329T>A GRCh38
NC_000001.10:g.116310950T>A , CM000663.1:g.116310950T>A GRCh37
NC_000001.9:g.116112473T>A NCBI36
NG_008802.1:g.5477A>T , LRG_404:g.5477A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-64A>T ENSP00000518226.1:n.-64A>T
ENST00000261448.6:c.213A>T MANE Select ENSP00000261448.5:p.Gln71His
ENST00000261448.5:c.213A>T ENSP00000261448.5:p.Gln71His
NM_001232.3:c.213A>T , LRG_404t1:c.213A>T NP_001223.2:p.Gln71His
NM_001232.4:c.213A>T MANE Select NP_001223.2:p.Gln71His
Search 100 bp 5'
Search 100 bp 3'