Canonical Allele Identifier: CA812031479

Gene: MOCS2

Linked Data

• dbSNP Id: rs1382879968
• gnomAD v3: 5-53098524-GGA-G
• gnomAD v4: 5-53098524-GGA-G
• MyVariant Identifiers: chr5:g.52394355_52394356del (hg19) ; chr5:g.53098525_53098526del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098529_53098530del , CM000667.2:g.53098529_53098530del	GRCh38
NC_000005.9:g.52394359_52394360del , CM000667.1:g.52394359_52394360del	GRCh37
NC_000005.8:g.52430116_52430117del	NCBI36
NG_008435.2:g.16243_16244del

Transcript Alleles

HGVS	Amino-acid change
ENST00000396954.8:c.*76_*77del MANE Select	ENSP00000380157.3:n.*76_*77del
ENST00000450852.8:c.*563_*564del MANE Plus Clinical	ENSP00000411022.3:n.*563_*564del
ENST00000361377.8:c.*412_*413del	ENSP00000355160.4:n.*412_*413del
ENST00000396954.7:c.*76_*77del	ENSP00000380157.3:n.*76_*77del
ENST00000450852.7:c.*563_*564del	ENSP00000411022.3:n.*563_*564del
ENST00000502402.5:n.2390_2391del
ENST00000508922.5:c.*483_*484del	ENSP00000426274.1:n.*483_*484del
ENST00000510818.6:c.*516_*517del	ENSP00000424267.2:n.*516_*517del
ENST00000582677.5:c.*284_*285del	ENSP00000462870.1:n.*284_*285del
NM_004531.4:c.*76_*77del	NP_004522.1:n.*76_*77del
NM_176806.3:c.*563_*564del	NP_789776.1:n.*563_*564del
NM_004531.5:c.*76_*77del MANE Select	NP_004522.1:n.*76_*77del
NM_176806.4:c.*563_*564del MANE Plus Clinical	NP_789776.1:n.*563_*564del