Canonical Allele Identifier: CA1190726901

Gene: CASQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115732870_115732872delinsCTG , CM000663.2:g.115732870_115732872delinsCTG	GRCh38
NC_000001.10:g.116275491_116275493delinsCTG , CM000663.1:g.116275491_116275493delinsCTG	GRCh37
NC_000001.9:g.116077014_116077016delinsCTG	NCBI36
NG_008802.1:g.40934_40936delinsCAG , LRG_404:g.40934_40936delinsCAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000488931.2:c.330+29_330+31delinsCAG	ENSP00000518226.1:n.330+29_330+31delinsCA...
ENST00000261448.6:c.606+29_606+31delinsCAG MANE Select	ENSP00000261448.5:n.606+29_606+31delinsCA...
ENST00000261448.5:c.606+29_606+31delinsCAG	ENSP00000261448.5:n.606+29_606+31delinsCA...
ENST00000488931.1:n.27+29_27+31delinsCAG
NM_001232.3:c.606+29_606+31delinsCAG , LRG_404t1:c.606+29_606+31delinsCAG	NP_001223.2:n.606+29_606+31delinsCAG
NM_001232.4:c.606+29_606+31delinsCAG MANE Select	NP_001223.2:n.606+29_606+31delinsCAG