Canonical Allele Identifier: CA1190729285

Gene: CASQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115738298A= , CM000663.2:g.115738298A=	GRCh38
NC_000001.10:g.116280919A= , CM000663.1:g.116280919A=	GRCh37
NC_000001.9:g.116082442A=	NCBI36
NG_008802.1:g.35508T= , LRG_404:g.35508T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.182T=	ENSP00000518226.1:p.Leu61=
ENST00000261448.6:c.458T= MANE Select	ENSP00000261448.5:p.Leu153=
ENST00000261448.5:c.458T=	ENSP00000261448.5:p.Leu153=
NM_001232.3:c.458T= , LRG_404t1:c.458T=	NP_001223.2:p.Leu153=
NM_001232.4:c.458T= MANE Select	NP_001223.2:p.Leu153=