Canonical Allele Identifier: CA1190742570

Gene: CASQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115768571A= , CM000663.2:g.115768571A=	GRCh38
NC_000001.10:g.116311192A= , CM000663.1:g.116311192A=	GRCh37
NC_000001.9:g.116112715A=	NCBI36
NG_008802.1:g.5235T= , LRG_404:g.5235T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.-223-83T=	ENSP00000518226.1:n.-223-83T=
ENST00000261448.6:c.-30T= MANE Select	ENSP00000261448.5:n.-30T=
ENST00000261448.5:c.-30T=	ENSP00000261448.5:n.-30T=
NM_001232.3:c.-30T= , LRG_404t1:c.-30T=	NP_001223.2:n.-30T=
NM_001232.4:c.-30T= MANE Select	NP_001223.2:n.-30T=