Canonical Allele Identifier: CA2673822488

Gene: MOCS2

Linked Data

• gnomAD v4: 5-53098473-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098477del , CM000667.2:g.53098477del	GRCh38
NC_000005.9:g.52394307del , CM000667.1:g.52394307del	GRCh37
NC_000005.8:g.52430064del	NCBI36
NG_008435.2:g.16295del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.*128del MANE Select	ENSP00000380157.3:n.*128del
ENST00000450852.8:c.*615del MANE Plus Clinical	ENSP00000411022.3:n.*615del
ENST00000361377.8:c.*464del	ENSP00000355160.4:n.*464del
ENST00000396954.7:c.*128del	ENSP00000380157.3:n.*128del
ENST00000450852.7:c.*615del	ENSP00000411022.3:n.*615del
ENST00000502402.5:n.2442del
ENST00000508922.5:c.*535del	ENSP00000426274.1:n.*535del
ENST00000510818.6:c.*568del	ENSP00000424267.2:n.*568del
ENST00000582677.5:c.*336del	ENSP00000462870.1:n.*336del
NM_004531.4:c.*128del	NP_004522.1:n.*128del
NM_176806.3:c.*615del	NP_789776.1:n.*615del
NM_004531.5:c.*128del MANE Select	NP_004522.1:n.*128del
NM_176806.4:c.*615del MANE Plus Clinical	NP_789776.1:n.*615del