Canonical Allele Identifier: CA2673822556

Gene: MOCS2

Linked Data

• gnomAD v4: 5-53098632-GTTTCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098638_53098642del , CM000667.2:g.53098638_53098642del	GRCh38
NC_000005.9:g.52394468_52394472del , CM000667.1:g.52394468_52394472del	GRCh37
NC_000005.8:g.52430225_52430229del	NCBI36
NG_008435.2:g.16132_16136del

Transcript Alleles

HGVS	Amino-acid change
ENST00000396954.8:c.532_536del MANE Select	ENSP00000380157.3:p.Gly178GlnfsTer?
ENST00000450852.8:c.*452_*456del MANE Plus Clinical	ENSP00000411022.3:n.*452_*456del
ENST00000361377.8:c.*301_*305del	ENSP00000355160.4:n.*301_*305del
ENST00000396954.7:c.532_536del	ENSP00000380157.3:p.Gly178GlnfsTer?
ENST00000450852.7:c.*452_*456del	ENSP00000411022.3:n.*452_*456del
ENST00000502402.5:n.2279_2283del
ENST00000508922.5:c.*372_*376del	ENSP00000426274.1:n.*372_*376del
ENST00000510818.6:c.*405_*409del	ENSP00000424267.2:n.*405_*409del
ENST00000582677.5:c.*173_*177del	ENSP00000462870.1:n.*173_*177del
ENST00000584946.5:c.*324_*328del	ENSP00000464663.1:n.*324_*328del
NM_004531.4:c.532_536del	NP_004522.1:p.Gly178GlnfsTer?
NM_176806.3:c.*452_*456del	NP_789776.1:n.*452_*456del
NM_004531.5:c.532_536del MANE Select	NP_004522.1:p.Gly178GlnfsTer?
NM_176806.4:c.*452_*456del MANE Plus Clinical	NP_789776.1:n.*452_*456del