Canonical Allele Identifier: CA2647281257

Gene: CASQ2

Linked Data

• gnomAD v4: 1-115768577-T-TATGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115768577_115768578insATGCC , CM000663.2:g.115768577_115768578insATGCC	GRCh38
NC_000001.10:g.116311198_116311199insATGCC , CM000663.1:g.116311198_116311199insATGCC	GRCh37
NC_000001.9:g.116112721_116112722insATGCC	NCBI36
NG_008802.1:g.5228_5229insGGCAT , LRG_404:g.5228_5229insGGCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.-223-90_-223-89insGGCAT	ENSP00000518226.1:n.-223-90_-223-89insGGCAT
ENST00000261448.6:c.-37_-36insGGCAT MANE Select	ENSP00000261448.5:n.-37_-36insGGCAT
ENST00000261448.5:c.-37_-36insGGCAT	ENSP00000261448.5:n.-37_-36insGGCAT
NM_001232.3:c.-37_-36insGGCAT , LRG_404t1:c.-37_-36insGGCAT	NP_001223.2:n.-37_-36insGGCAT
NM_001232.4:c.-37_-36insGGCAT MANE Select	NP_001223.2:n.-37_-36insGGCAT