Canonical Allele Identifier: CA3263746

Gene: MOCS2

Linked Data

• dbSNP Id: rs760008907
• ExAC: 5:52402923 C / CTA
• gnomAD v2: 5-52402923-C-CTA
• gnomAD v3: 5-53107093-C-CTA
• gnomAD v4: 5-53107093-C-CTA
• MyVariant Identifiers: chr5:g.52402923_52402924insTA (hg19) ; chr5:g.53107093_53107094insTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53107093_53107094insTA , CM000667.2:g.53107093_53107094insTA	GRCh38
NC_000005.9:g.52402923_52402924insTA , CM000667.1:g.52402923_52402924insTA	GRCh37
NC_000005.8:g.52438680_52438681insTA	NCBI36
NG_008435.2:g.7675_7676insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.81_82insTA MANE Select	ENSP00000380157.3:p.Ala28Ter
ENST00000450852.8:c.*1_*2insTA MANE Plus Clinical	ENSP00000411022.3:n.*1_*2insTA
ENST00000361377.8:c.*1_*2insTA	ENSP00000355160.4:n.*1_*2insTA
ENST00000396954.7:c.81_82insTA	ENSP00000380157.3:p.Ala28Ter
ENST00000450852.7:c.*1_*2insTA	ENSP00000411022.3:n.*1_*2insTA
ENST00000502402.5:n.1004_1005insTA
ENST00000508922.5:c.*1_*2insTA	ENSP00000426274.1:n.*1_*2insTA
ENST00000510818.6:c.*1_*2insTA	ENSP00000424267.2:n.*1_*2insTA
ENST00000514553.2:n.266_267insTA
ENST00000527216.5:c.*1_*2insTA	ENSP00000435326.1:n.*1_*2insTA
ENST00000582677.5:c.*1_*2insTA	ENSP00000462870.1:n.*1_*2insTA
ENST00000584946.5:c.*1_*2insTA	ENSP00000464663.1:n.*1_*2insTA
NM_004531.4:c.81_82insTA	NP_004522.1:p.Ala28Ter
NM_176806.3:c.*1_*2insTA	NP_789776.1:n.*1_*2insTA
NM_004531.5:c.81_82insTA MANE Select	NP_004522.1:p.Ala28Ter
NM_176806.4:c.*1_*2insTA MANE Plus Clinical	NP_789776.1:n.*1_*2insTA