Canonical Allele Identifier: CA2745153872

Gene: CASQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115703012_115703013insCCCAAACACACCCAACACA , CM000663.2:g.115703012_115703013insCCCAAACACACCCAACACA	GRCh38
NC_000001.10:g.116245633_116245634insCCCAAACACACCCAACACA , CM000663.1:g.116245633_116245634insCCCAAACACACCCAACACA	GRCh37
NC_000001.9:g.116047156_116047157insCCCAAACACACCCAACACA	NCBI36
NG_008802.1:g.70794_70795insGTGTTGGGTGTGTTTGGGT , LRG_404:g.70794_70795insGTGTTGGGTGTGTTTGGGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000488931.2:c.*312-17_*312-16insGTGTTGGGTGTGTTTGGGT	ENSP00000518226.1:n.*312-17_*312-16insGTGTTGGGTGTGTTTGGGT
ENST00000261448.6:c.940-17_940-16insGTGTTGGGTGTGTTTGGGT MANE Select	ENSP00000261448.5:n.940-17_940-16insGTGTTGGGTGTGTTTGGGT
ENST00000261448.5:c.940-17_940-16insGTGTTGGGTGTGTTTGGGT	ENSP00000261448.5:n.940-17_940-16insGTGTTGGGTGTGTTTGGGT
NM_001232.3:c.940-17_940-16insGTGTTGGGTGTGTTTGGGT , LRG_404t1:c.940-17_940-16insGTGTTGGGTGTGTTTGGGT	NP_001223.2:n.940-17_940-16insGTGTTGGGTGTGTTTGGGT
NM_001232.4:c.940-17_940-16insGTGTTGGGTGTGTTTGGGT MANE Select	NP_001223.2:n.940-17_940-16insGTGTTGGGTGTGTTTGGGT