Canonical Allele Identifier: CA1190742574

Gene: CASQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115768580G= , CM000663.2:g.115768580G=	GRCh38
NC_000001.10:g.116311201G= , CM000663.1:g.116311201G=	GRCh37
NC_000001.9:g.116112724G=	NCBI36
NG_008802.1:g.5226C= , LRG_404:g.5226C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.-223-92C=	ENSP00000518226.1:n.-223-92C=
ENST00000261448.6:c.-39C= MANE Select	ENSP00000261448.5:n.-39C=
ENST00000261448.5:c.-39C=	ENSP00000261448.5:n.-39C=
NM_001232.3:c.-39C= , LRG_404t1:c.-39C=	NP_001223.2:n.-39C=
NM_001232.4:c.-39C= MANE Select	NP_001223.2:n.-39C=