Canonical Allele Identifier: CA1190742498

Gene: CASQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115768372T= , CM000663.2:g.115768372T=	GRCh38
NC_000001.10:g.116310993T= , CM000663.1:g.116310993T=	GRCh37
NC_000001.9:g.116112516T=	NCBI36
NG_008802.1:g.5434A= , LRG_404:g.5434A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.-107A=	ENSP00000518226.1:n.-107A=
ENST00000261448.6:c.170A= MANE Select	ENSP00000261448.5:p.His57=
ENST00000261448.5:c.170A=	ENSP00000261448.5:p.His57=
NM_001232.3:c.170A= , LRG_404t1:c.170A=	NP_001223.2:p.His57=
NM_001232.4:c.170A= MANE Select	NP_001223.2:p.His57=