Canonical Allele Identifier: CA1142093231

Gene: CASQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115705219C= , CM000663.2:g.115705219C=	GRCh38
NC_000001.10:g.116247840C= , CM000663.1:g.116247840C=	GRCh37
NC_000001.9:g.116049363C=	NCBI36
NG_008802.1:g.68587G= , LRG_404:g.68587G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000488931.2:c.*284G=	ENSP00000518226.1:n.*284G=
ENST00000261448.6:c.912G= MANE Select	ENSP00000261448.5:p.Leu304=
ENST00000261448.5:c.912G=	ENSP00000261448.5:p.Leu304=
NM_001232.3:c.912G= , LRG_404t1:c.912G=	NP_001223.2:p.Leu304=
NM_001232.4:c.912G= MANE Select	NP_001223.2:p.Leu304=