Canonical Allele Identifier: CA2673822553

Gene: MOCS2

Linked Data

• gnomAD v4: 5-53098594-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098595dup , CM000667.2:g.53098595dup	GRCh38
NC_000005.9:g.52394425dup , CM000667.1:g.52394425dup	GRCh37
NC_000005.8:g.52430182dup	NCBI36
NG_008435.2:g.16174dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.*7dup MANE Select	ENSP00000380157.3:n.*7dup
ENST00000450852.8:c.*494dup MANE Plus Clinical	ENSP00000411022.3:n.*494dup
ENST00000361377.8:c.*343dup	ENSP00000355160.4:n.*343dup
ENST00000396954.7:c.*7dup	ENSP00000380157.3:n.*7dup
ENST00000450852.7:c.*494dup	ENSP00000411022.3:n.*494dup
ENST00000502402.5:n.2321dup
ENST00000508922.5:c.*414dup	ENSP00000426274.1:n.*414dup
ENST00000510818.6:c.*447dup	ENSP00000424267.2:n.*447dup
ENST00000582677.5:c.*215dup	ENSP00000462870.1:n.*215dup
ENST00000584946.5:c.*366dup	ENSP00000464663.1:n.*366dup
NM_004531.4:c.*7dup	NP_004522.1:n.*7dup
NM_176806.3:c.*494dup	NP_789776.1:n.*494dup
NM_004531.5:c.*7dup MANE Select	NP_004522.1:n.*7dup
NM_176806.4:c.*494dup MANE Plus Clinical	NP_789776.1:n.*494dup