Canonical Allele Identifier: CA3263754

Gene: MOCS2

Linked Data

• dbSNP Id: rs398122799
• ExAC: 5:52402939 TG / T
• gnomAD v2: 5-52402939-TG-T
• gnomAD v4: 5-53107109-TG-T
• COSMIC: COSM1437764 ; COSM1437765
• MyVariant Identifiers: chr5:g.52402940del (hg19) ; chr5:g.53107110del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53107116del , CM000667.2:g.53107116del	GRCh38
NC_000005.9:g.52402946del , CM000667.1:g.52402946del	GRCh37
NC_000005.8:g.52438703del	NCBI36
NG_008435.2:g.7659del

Transcript Alleles

HGVS	Amino-acid change
ENST00000396954.8:c.65del MANE Select	ENSP00000380157.3:p.Pro22HisfsTer2
ENST00000450852.8:c.252del MANE Plus Clinical	ENSP00000411022.3:p.Ile85LeufsTer?
ENST00000361377.8:c.252del	ENSP00000355160.4:p.Ile85LeufsTer?
ENST00000396954.7:c.65del	ENSP00000380157.3:p.Pro22HisfsTer2
ENST00000450852.7:c.252del	ENSP00000411022.3:p.Ile85LeufsTer?
ENST00000502402.5:n.988del
ENST00000508922.5:c.252del	ENSP00000426274.1:p.Ile85LeufsTer?
ENST00000510818.6:c.252del	ENSP00000424267.2:p.Ile85LeufsTer?
ENST00000514553.2:n.250del
ENST00000527216.5:c.237del	ENSP00000435326.1:p.Ile80LeufsTer?
ENST00000582677.5:c.252del	ENSP00000462870.1:p.Ile85LeufsTer?
ENST00000584946.5:c.252del	ENSP00000464663.1:p.Ile85LeufsTer16
NM_004531.4:c.65del	NP_004522.1:p.Pro22HisfsTer2
NM_176806.3:c.252del	NP_789776.1:p.Ile85LeufsTer?
NM_004531.5:c.65del MANE Select	NP_004522.1:p.Pro22HisfsTer2
NM_176806.4:c.252del MANE Plus Clinical	NP_789776.1:p.Ile85LeufsTer?