Canonical Allele Identifier: CA1190726195
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs1647773066
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115731249T>A , CM000663.2:g.115731249T>A GRCh38
NC_000001.10:g.116273870T>A , CM000663.1:g.116273870T>A GRCh37
NC_000001.9:g.116075393T>A NCBI36
NG_008802.1:g.42557A>T , LRG_404:g.42557A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.425+865A>T ENSP00000518226.1:n.425+865A>T
ENST00000261448.6:c.606+1652A>T MANE Select ENSP00000261448.5:n.606+1652A>T
ENST00000261448.5:c.606+1652A>T ENSP00000261448.5:n.606+1652A>T
ENST00000488931.1:n.122+865A>T
NM_001232.3:c.606+1652A>T , LRG_404t1:c.606+1652A>T NP_001223.2:n.606+1652A>T
NM_001232.4:c.606+1652A>T MANE Select NP_001223.2:n.606+1652A>T
Search 100 bp 5'
Search 100 bp 3'