Canonical Allele Identifier: CA916269106

Gene: CASQ2

Linked Data

• dbSNP Id: rs1557809694
• gnomAD v4: 1-115768305-TACCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115768307_115768311del , CM000663.2:g.115768307_115768311del	GRCh38
NC_000001.10:g.116310928_116310932del , CM000663.1:g.116310928_116310932del	GRCh37
NC_000001.9:g.116112451_116112455del	NCBI36
NG_008802.1:g.5496_5500del , LRG_404:g.5496_5500del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.-45_-43+2del
ENST00000261448.6:c.232_234+2del
ENST00000261448.5:c.232_234+2del
NM_001232.3:c.232_234+2del , LRG_404t1:c.232_234+2del
NM_001232.4:c.232_234+2del