Canonical Allele Identifier: CA2673822545

Gene: MOCS2

Linked Data

• gnomAD v4: 5-53098576-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098578del , CM000667.2:g.53098578del	GRCh38
NC_000005.9:g.52394408del , CM000667.1:g.52394408del	GRCh37
NC_000005.8:g.52430165del	NCBI36
NG_008435.2:g.16192del

Transcript Alleles

HGVS	Amino-acid change
ENST00000396954.8:c.*25del MANE Select	ENSP00000380157.3:n.*25del
ENST00000450852.8:c.*512del MANE Plus Clinical	ENSP00000411022.3:n.*512del
ENST00000361377.8:c.*361del	ENSP00000355160.4:n.*361del
ENST00000396954.7:c.*25del	ENSP00000380157.3:n.*25del
ENST00000450852.7:c.*512del	ENSP00000411022.3:n.*512del
ENST00000502402.5:n.2339del
ENST00000508922.5:c.*432del	ENSP00000426274.1:n.*432del
ENST00000510818.6:c.*465del	ENSP00000424267.2:n.*465del
ENST00000582677.5:c.*233del	ENSP00000462870.1:n.*233del
ENST00000584946.5:c.*384del	ENSP00000464663.1:n.*384del
NM_004531.4:c.*25del	NP_004522.1:n.*25del
NM_176806.3:c.*512del	NP_789776.1:n.*512del
NM_004531.5:c.*25del MANE Select	NP_004522.1:n.*25del
NM_176806.4:c.*512del MANE Plus Clinical	NP_789776.1:n.*512del