Canonical Allele Identifier: CA2647281244

Gene: CASQ2

Linked Data

• gnomAD v4: 1-115768559-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115768559T>A , CM000663.2:g.115768559T>A	GRCh38
NC_000001.10:g.116311180T>A , CM000663.1:g.116311180T>A	GRCh37
NC_000001.9:g.116112703T>A	NCBI36
NG_008802.1:g.5247A>T , LRG_404:g.5247A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.-223-71A>T	ENSP00000518226.1:n.-223-71A>T
ENST00000261448.6:c.-18A>T MANE Select	ENSP00000261448.5:n.-18A>T
ENST00000261448.5:c.-18A>T	ENSP00000261448.5:n.-18A>T
NM_001232.3:c.-18A>T , LRG_404t1:c.-18A>T	NP_001223.2:n.-18A>T
NM_001232.4:c.-18A>T MANE Select	NP_001223.2:n.-18A>T