Canonical Allele Identifier: CA885948405

Gene: CASQ2

Linked Data

• dbSNP Id: rs1458777462
• MyVariant Identifiers: chr1:g.116275442_116275445del (hg19) ; chr1:g.115732821_115732824del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115732826_115732829del , CM000663.2:g.115732826_115732829del	GRCh38
NC_000001.10:g.116275447_116275450del , CM000663.1:g.116275447_116275450del	GRCh37
NC_000001.9:g.116076970_116076973del	NCBI36
NG_008802.1:g.40982_40985del , LRG_404:g.40982_40985del

Transcript Alleles

HGVS	Amino-acid change
ENST00000488931.2:c.330+77_330+80del	ENSP00000518226.1:n.330+77_330+80del
ENST00000261448.6:c.606+77_606+80del MANE Select	ENSP00000261448.5:n.606+77_606+80del
ENST00000261448.5:c.606+77_606+80del	ENSP00000261448.5:n.606+77_606+80del
ENST00000488931.1:n.27+77_27+80del
NM_001232.3:c.606+77_606+80del , LRG_404t1:c.606+77_606+80del	NP_001223.2:n.606+77_606+80del
NM_001232.4:c.606+77_606+80del MANE Select	NP_001223.2:n.606+77_606+80del