Canonical Allele Identifier: CA2556129263

Gene: CASQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115702913_115702914insCGGCGGGTGGGTCCT , CM000663.2:g.115702913_115702914insCGGCGGGTGGGTCCT	GRCh38
NC_000001.10:g.116245534_116245535insCGGCGGGTGGGTCCT , CM000663.1:g.116245534_116245535insCGGCGGGTGGGTCCT	GRCh37
NC_000001.9:g.116047057_116047058insCGGCGGGTGGGTCCT	NCBI36
NG_008802.1:g.70892_70893insAGGACCCACCCGCCG , LRG_404:g.70892_70893insAGGACCCACCCGCCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000488931.2:c.*386+7_*386+8insAGGACCCACCCGCCG	ENSP00000518226.1:n.*386+7_*386+8insAGGACCCACCCGCCG
ENST00000261448.6:c.1014+7_1014+8insAGGACCCACCCGCCG MANE Select	ENSP00000261448.5:n.1014+7_1014+8insAGGACCCACCCGCCG
ENST00000261448.5:c.1014+7_1014+8insAGGACCCACCCGCCG	ENSP00000261448.5:n.1014+7_1014+8insAGGACCCACCCGCCG
NM_001232.3:c.1014+7_1014+8insAGGACCCACCCGCCG , LRG_404t1:c.1014+7_1014+8insAGGACCCACCCGCCG	NP_001223.2:n.1014+7_1014+8insAGGACCCACCCGCCG
NM_001232.4:c.1014+7_1014+8insAGGACCCACCCGCCG MANE Select	NP_001223.2:n.1014+7_1014+8insAGGACCCACCCGCCG