Canonical Allele Identifier: CA1140803119

Gene: CASQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115700738C= , CM000663.2:g.115700738C=	GRCh38
NC_000001.10:g.116243359C= , CM000663.1:g.116243359C=	GRCh37
NC_000001.9:g.116044882C=	NCBI36
NG_008802.1:g.73068G= , LRG_404:g.73068G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.*1075G=	ENSP00000518226.1:n.*1075G=
ENST00000261448.6:c.*503G= MANE Select	ENSP00000261448.5:n.*503G=
ENST00000261448.5:c.*503G=	ENSP00000261448.5:n.*503G=
NM_001232.3:c.*503G= , LRG_404t1:c.*503G=	NP_001223.2:n.*503G=
NM_001232.4:c.*503G= MANE Select	NP_001223.2:n.*503G=