Canonical Allele Identifier: CA1190742505

Gene: CASQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115768397A= , CM000663.2:g.115768397A=	GRCh38
NC_000001.10:g.116311018A= , CM000663.1:g.116311018A=	GRCh37
NC_000001.9:g.116112541A=	NCBI36
NG_008802.1:g.5409T= , LRG_404:g.5409T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.-132T=	ENSP00000518226.1:n.-132T=
ENST00000261448.6:c.145T= MANE Select	ENSP00000261448.5:p.Tyr49=
ENST00000261448.5:c.145T=	ENSP00000261448.5:p.Tyr49=
NM_001232.3:c.145T= , LRG_404t1:c.145T=	NP_001223.2:p.Tyr49=
NM_001232.4:c.145T= MANE Select	NP_001223.2:p.Tyr49=