Canonical Allele Identifier: CA916268676
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs1570831971
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738546del , CM000663.2:g.115738546del GRCh38
NC_000001.10:g.116281167del , CM000663.1:g.116281167del GRCh37
NC_000001.9:g.116082690del NCBI36
NG_008802.1:g.35264del , LRG_404:g.35264del

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.145-207del ENSP00000518226.1:n.145-207del
ENST00000261448.6:c.421-207del MANE Select ENSP00000261448.5:n.421-207del
ENST00000261448.5:c.421-207del ENSP00000261448.5:n.421-207del
NM_001232.3:c.421-207del , LRG_404t1:c.421-207del NP_001223.2:n.421-207del
NM_001232.4:c.421-207del MANE Select NP_001223.2:n.421-207del
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Search 100 bp 3'