Canonical Allele Identifier: CA3263739

Gene: MOCS2

Linked Data

• dbSNP Id: rs771573480
• ExAC: 5:52402893 CA / C
• gnomAD v3: 5-53107063-CA-C
• gnomAD v4: 5-53107063-CA-C
• MyVariant Identifiers: chr5:g.52402894del (hg19) ; chr5:g.53107064del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53107066del , CM000667.2:g.53107066del	GRCh38
NC_000005.9:g.52402896del , CM000667.1:g.52402896del	GRCh37
NC_000005.8:g.52438653del	NCBI36
NG_008435.2:g.7705del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.98+13del MANE Select	ENSP00000380157.3:n.98+13del
ENST00000450852.8:c.*18+13del MANE Plus Clinical	ENSP00000411022.3:n.*18+13del
ENST00000361377.8:c.*18+13del	ENSP00000355160.4:n.*18+13del
ENST00000396954.7:c.98+13del	ENSP00000380157.3:n.98+13del
ENST00000450852.7:c.*18+13del	ENSP00000411022.3:n.*18+13del
ENST00000502402.5:n.1021+13del
ENST00000508922.5:c.*18+13del	ENSP00000426274.1:n.*18+13del
ENST00000510818.6:c.*18+13del	ENSP00000424267.2:n.*18+13del
ENST00000514553.2:n.283+13del
ENST00000527216.5:c.*18+13del	ENSP00000435326.1:n.*18+13del
ENST00000582677.5:c.*18+13del	ENSP00000462870.1:n.*18+13del
ENST00000584946.5:c.*18+13del	ENSP00000464663.1:n.*18+13del
NM_004531.4:c.98+13del	NP_004522.1:n.98+13del
NM_176806.3:c.*18+13del	NP_789776.1:n.*18+13del
NM_004531.5:c.98+13del MANE Select	NP_004522.1:n.98+13del
NM_176806.4:c.*18+13del MANE Plus Clinical	NP_789776.1:n.*18+13del