Canonical Allele Identifier: CA2673822541

Gene: MOCS2

Linked Data

• gnomAD v4: 5-53098569-AGTTAAGATTGCAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098571_53098583del , CM000667.2:g.53098571_53098583del	GRCh38
NC_000005.9:g.52394401_52394413del , CM000667.1:g.52394401_52394413del	GRCh37
NC_000005.8:g.52430158_52430170del	NCBI36
NG_008435.2:g.16187_16199del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.*20_*32del MANE Select	ENSP00000380157.3:n.*20_*32del
ENST00000450852.8:c.*507_*519del MANE Plus Clinical	ENSP00000411022.3:n.*507_*519del
ENST00000361377.8:c.*356_*368del	ENSP00000355160.4:n.*356_*368del
ENST00000396954.7:c.*20_*32del	ENSP00000380157.3:n.*20_*32del
ENST00000450852.7:c.*507_*519del	ENSP00000411022.3:n.*507_*519del
ENST00000502402.5:n.2334_2346del
ENST00000508922.5:c.*427_*439del	ENSP00000426274.1:n.*427_*439del
ENST00000510818.6:c.*460_*472del	ENSP00000424267.2:n.*460_*472del
ENST00000582677.5:c.*228_*240del	ENSP00000462870.1:n.*228_*240del
ENST00000584946.5:c.*379_*391del	ENSP00000464663.1:n.*379_*391del
NM_004531.4:c.*20_*32del	NP_004522.1:n.*20_*32del
NM_176806.3:c.*507_*519del	NP_789776.1:n.*507_*519del
NM_004531.5:c.*20_*32del MANE Select	NP_004522.1:n.*20_*32del
NM_176806.4:c.*507_*519del MANE Plus Clinical	NP_789776.1:n.*507_*519del