Canonical Allele Identifier: CA1190742575

Gene: CASQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115768581T= , CM000663.2:g.115768581T=	GRCh38
NC_000001.10:g.116311202T= , CM000663.1:g.116311202T=	GRCh37
NC_000001.9:g.116112725T=	NCBI36
NG_008802.1:g.5225A= , LRG_404:g.5225A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.-223-93A=	ENSP00000518226.1:n.-223-93A=
ENST00000261448.6:c.-40A= MANE Select	ENSP00000261448.5:n.-40A=
ENST00000261448.5:c.-40A=	ENSP00000261448.5:n.-40A=
NM_001232.3:c.-40A= , LRG_404t1:c.-40A=	NP_001223.2:n.-40A=
NM_001232.4:c.-40A= MANE Select	NP_001223.2:n.-40A=