Canonical Allele Identifier: CA2673822457

Gene: MOCS2

Linked Data

• gnomAD v4: 5-53098432-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098434del , CM000667.2:g.53098434del	GRCh38
NC_000005.9:g.52394264del , CM000667.1:g.52394264del	GRCh37
NC_000005.8:g.52430021del	NCBI36
NG_008435.2:g.16336del

Transcript Alleles

HGVS	Amino-acid change
ENST00000396954.8:c.*169del MANE Select	ENSP00000380157.3:n.*169del
ENST00000450852.8:c.*656del MANE Plus Clinical	ENSP00000411022.3:n.*656del
ENST00000361377.8:c.*505del	ENSP00000355160.4:n.*505del
ENST00000396954.7:c.*169del	ENSP00000380157.3:n.*169del
ENST00000450852.7:c.*656del	ENSP00000411022.3:n.*656del
ENST00000502402.5:n.2483del
ENST00000508922.5:c.*576del	ENSP00000426274.1:n.*576del
ENST00000510818.6:c.*609del	ENSP00000424267.2:n.*609del
ENST00000582677.5:c.*377del	ENSP00000462870.1:n.*377del
NM_004531.4:c.*169del	NP_004522.1:n.*169del
NM_176806.3:c.*656del	NP_789776.1:n.*656del
NM_004531.5:c.*169del MANE Select	NP_004522.1:n.*169del
NM_176806.4:c.*656del MANE Plus Clinical	NP_789776.1:n.*656del