Canonical Allele Identifier: CA2843087382

Gene: CASQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115732818dup , CM000663.2:g.115732818dup	GRCh38
NC_000001.10:g.116275439dup , CM000663.1:g.116275439dup	GRCh37
NC_000001.9:g.116076962dup	NCBI36
NG_008802.1:g.40991dup , LRG_404:g.40991dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.330+86dup	ENSP00000518226.1:n.330+86dup
ENST00000261448.6:c.606+86dup MANE Select	ENSP00000261448.5:n.606+86dup
ENST00000261448.5:c.606+86dup	ENSP00000261448.5:n.606+86dup
ENST00000488931.1:n.27+86dup
NM_001232.3:c.606+86dup , LRG_404t1:c.606+86dup	NP_001223.2:n.606+86dup
NM_001232.4:c.606+86dup MANE Select	NP_001223.2:n.606+86dup