Canonical Allele Identifier: CA812031475

Gene: MOCS2

Linked Data

• dbSNP Id: rs1217817156
• gnomAD v4: 5-53098489-A-AT
• MyVariant Identifiers: chr5:g.52394319_52394320insT (hg19) ; chr5:g.53098489_53098490insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098490dup , CM000667.2:g.53098490dup	GRCh38
NC_000005.9:g.52394320dup , CM000667.1:g.52394320dup	GRCh37
NC_000005.8:g.52430077dup	NCBI36
NG_008435.2:g.16279dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.*112dup MANE Select	ENSP00000380157.3:n.*112dup
ENST00000450852.8:c.*599dup MANE Plus Clinical	ENSP00000411022.3:n.*599dup
ENST00000361377.8:c.*448dup	ENSP00000355160.4:n.*448dup
ENST00000396954.7:c.*112dup	ENSP00000380157.3:n.*112dup
ENST00000450852.7:c.*599dup	ENSP00000411022.3:n.*599dup
ENST00000502402.5:n.2426dup
ENST00000508922.5:c.*519dup	ENSP00000426274.1:n.*519dup
ENST00000510818.6:c.*552dup	ENSP00000424267.2:n.*552dup
ENST00000582677.5:c.*320dup	ENSP00000462870.1:n.*320dup
NM_004531.4:c.*112dup	NP_004522.1:n.*112dup
NM_176806.3:c.*599dup	NP_789776.1:n.*599dup
NM_004531.5:c.*112dup MANE Select	NP_004522.1:n.*112dup
NM_176806.4:c.*599dup MANE Plus Clinical	NP_789776.1:n.*599dup