Canonical Allele Identifier: CA1190742503

Gene: CASQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115768394C= , CM000663.2:g.115768394C=	GRCh38
NC_000001.10:g.116311015C= , CM000663.1:g.116311015C=	GRCh37
NC_000001.9:g.116112538C=	NCBI36
NG_008802.1:g.5412G= , LRG_404:g.5412G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.-129G=	ENSP00000518226.1:n.-129G=
ENST00000261448.6:c.148G= MANE Select	ENSP00000261448.5:p.Asp50=
ENST00000261448.5:c.148G=	ENSP00000261448.5:p.Asp50=
NM_001232.3:c.148G= , LRG_404t1:c.148G=	NP_001223.2:p.Asp50=
NM_001232.4:c.148G= MANE Select	NP_001223.2:p.Asp50=