Canonical Allele Identifier: CA1190729271

Gene: CASQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115738263T= , CM000663.2:g.115738263T=	GRCh38
NC_000001.10:g.116280884T= , CM000663.1:g.116280884T=	GRCh37
NC_000001.9:g.116082407T=	NCBI36
NG_008802.1:g.35543A= , LRG_404:g.35543A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.217A=	ENSP00000518226.1:p.Ile73=
ENST00000261448.6:c.493A= MANE Select	ENSP00000261448.5:p.Ile165=
ENST00000261448.5:c.493A=	ENSP00000261448.5:p.Ile165=
NM_001232.3:c.493A= , LRG_404t1:c.493A=	NP_001223.2:p.Ile165=
NM_001232.4:c.493A= MANE Select	NP_001223.2:p.Ile165=