Canonical Allele Identifier: CA3263567

Gene: MOCS2

Linked Data

• dbSNP Id: rs748269910
• ExAC: 5:52394401 T / TTAAAC
• gnomAD v2: 5-52394401-T-TTAAAC
• gnomAD v3: 5-53098571-T-TTAAAC
• gnomAD v4: 5-53098571-T-TTAAAC
• MyVariant Identifiers: chr5:g.52394401_52394402insTAAAC (hg19) ; chr5:g.53098571_53098572insTAAAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098574_53098575insACTAA , CM000667.2:g.53098574_53098575insACTAA	GRCh38
NC_000005.9:g.52394404_52394405insACTAA , CM000667.1:g.52394404_52394405insACTAA	GRCh37
NC_000005.8:g.52430161_52430162insACTAA	NCBI36
NG_008435.2:g.16197_16198insGTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.*30_*31insGTTTA MANE Select	ENSP00000380157.3:n.*30_*31insGTTTA
ENST00000450852.8:c.*517_*518insGTTTA MANE Plus Clinical	ENSP00000411022.3:n.*517_*518insGTTTA
ENST00000361377.8:c.*366_*367insGTTTA	ENSP00000355160.4:n.*366_*367insGTTTA
ENST00000396954.7:c.*30_*31insGTTTA	ENSP00000380157.3:n.*30_*31insGTTTA
ENST00000450852.7:c.*517_*518insGTTTA	ENSP00000411022.3:n.*517_*518insGTTTA
ENST00000502402.5:n.2344_2345insGTTTA
ENST00000508922.5:c.*437_*438insGTTTA	ENSP00000426274.1:n.*437_*438insGTTTA
ENST00000510818.6:c.*470_*471insGTTTA	ENSP00000424267.2:n.*470_*471insGTTTA
ENST00000582677.5:c.*238_*239insGTTTA	ENSP00000462870.1:n.*238_*239insGTTTA
ENST00000584946.5:c.*389_*390insGTTTA	ENSP00000464663.1:n.*389_*390insGTTTA
NM_004531.4:c.*30_*31insGTTTA	NP_004522.1:n.*30_*31insGTTTA
NM_176806.3:c.*517_*518insGTTTA	NP_789776.1:n.*517_*518insGTTTA
NM_004531.5:c.*30_*31insGTTTA MANE Select	NP_004522.1:n.*30_*31insGTTTA
NM_176806.4:c.*517_*518insGTTTA MANE Plus Clinical	NP_789776.1:n.*517_*518insGTTTA