Canonical Allele Identifier: CA885947936
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs3010396
MyVariant Identifiers: chr1:g.116273788A>T (hg19) chr1:g.115731167A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115731167A>T , CM000663.2:g.115731167A>T GRCh38
NC_000001.10:g.116273788A>T , CM000663.1:g.116273788A>T GRCh37
NC_000001.9:g.116075311A>T NCBI36
NG_008802.1:g.42639T>A , LRG_404:g.42639T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.425+947T>A ENSP00000518226.1:n.425+947T>A
ENST00000261448.6:c.606+1734T>A MANE Select ENSP00000261448.5:n.606+1734T>A
ENST00000261448.5:c.606+1734T>A ENSP00000261448.5:n.606+1734T>A
ENST00000488931.1:n.122+947T>A
NM_001232.3:c.606+1734T>A , LRG_404t1:c.606+1734T>A NP_001223.2:n.606+1734T>A
NM_001232.4:c.606+1734T>A MANE Select NP_001223.2:n.606+1734T>A
Search 100 bp 5'
Search 100 bp 3'