Canonical Allele Identifier: CA2647280003
Gene: CASQ2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738088G>T , CM000663.2:g.115738088G>T GRCh38
NC_000001.10:g.116280709G>T , CM000663.1:g.116280709G>T GRCh37
NC_000001.9:g.116082232G>T NCBI36
NG_008802.1:g.35718C>A , LRG_404:g.35718C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.256+136C>A ENSP00000518226.1:n.256+136C>A
ENST00000261448.6:c.532+136C>A MANE Select ENSP00000261448.5:n.532+136C>A
ENST00000261448.5:c.532+136C>A ENSP00000261448.5:n.532+136C>A
NM_001232.3:c.532+136C>A , LRG_404t1:c.532+136C>A NP_001223.2:n.532+136C>A
NM_001232.4:c.532+136C>A MANE Select NP_001223.2:n.532+136C>A