Canonical Allele Identifier: CA2843085120

Gene: CASQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115738142dup , CM000663.2:g.115738142dup	GRCh38
NC_000001.10:g.116280763dup , CM000663.1:g.116280763dup	GRCh37
NC_000001.9:g.116082286dup	NCBI36
NG_008802.1:g.35666dup , LRG_404:g.35666dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.256+84dup	ENSP00000518226.1:n.256+84dup
ENST00000261448.6:c.532+84dup MANE Select	ENSP00000261448.5:n.532+84dup
ENST00000261448.5:c.532+84dup	ENSP00000261448.5:n.532+84dup
NM_001232.3:c.532+84dup , LRG_404t1:c.532+84dup	NP_001223.2:n.532+84dup
NM_001232.4:c.532+84dup MANE Select	NP_001223.2:n.532+84dup