Canonical Allele Identifier: CA2578307983

Gene: MOCS2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098628_53098631del , CM000667.2:g.53098628_53098631del	GRCh38
NC_000005.9:g.52394458_52394461del , CM000667.1:g.52394458_52394461del	GRCh37
NC_000005.8:g.52430215_52430218del	NCBI36
NG_008435.2:g.16139_16142del

Transcript Alleles

HGVS	Amino-acid change
ENST00000396954.8:c.539_542del MANE Select	ENSP00000380157.3:p.Lys180SerfsTer14
ENST00000450852.8:c.*459_*462del MANE Plus Clinical	ENSP00000411022.3:n.*459_*462del
ENST00000361377.8:c.*308_*311del	ENSP00000355160.4:n.*308_*311del
ENST00000396954.7:c.539_542del	ENSP00000380157.3:p.Lys180SerfsTer14
ENST00000450852.7:c.*459_*462del	ENSP00000411022.3:n.*459_*462del
ENST00000502402.5:n.2286_2289del
ENST00000508922.5:c.*379_*382del	ENSP00000426274.1:n.*379_*382del
ENST00000510818.6:c.*412_*415del	ENSP00000424267.2:n.*412_*415del
ENST00000582677.5:c.*180_*183del	ENSP00000462870.1:n.*180_*183del
ENST00000584946.5:c.*331_*334del	ENSP00000464663.1:n.*331_*334del
NM_004531.4:c.539_542del	NP_004522.1:p.Lys180SerfsTer14
NM_176806.3:c.*459_*462del	NP_789776.1:n.*459_*462del
NM_004531.5:c.539_542del MANE Select	NP_004522.1:p.Lys180SerfsTer14
NM_176806.4:c.*459_*462del MANE Plus Clinical	NP_789776.1:n.*459_*462del