Canonical Allele Identifier: CA1140130111

Gene: CASQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115700759G= , CM000663.2:g.115700759G=	GRCh38
NC_000001.10:g.116243380G= , CM000663.1:g.116243380G=	GRCh37
NC_000001.9:g.116044903G=	NCBI36
NG_008802.1:g.73047C= , LRG_404:g.73047C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.*1054C=	ENSP00000518226.1:n.*1054C=
ENST00000261448.6:c.*482C= MANE Select	ENSP00000261448.5:n.*482C=
ENST00000261448.5:c.*482C=	ENSP00000261448.5:n.*482C=
NM_001232.3:c.*482C= , LRG_404t1:c.*482C=	NP_001223.2:n.*482C=
NM_001232.4:c.*482C= MANE Select	NP_001223.2:n.*482C=