Canonical Allele Identifier: CA3263589

Gene: MOCS2

Linked Data

• dbSNP Id: rs749221590
• ExAC: 5:52394502 AAAAC / A
• gnomAD v2: 5-52394502-AAAAC-A
• gnomAD v3: 5-53098672-AAAAC-A
• gnomAD v4: 5-53098672-AAAAC-A
• MyVariant Identifiers: chr5:g.52394503_52394506del (hg19) ; chr5:g.53098673_53098676del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098676_53098679del , CM000667.2:g.53098676_53098679del	GRCh38
NC_000005.9:g.52394506_52394509del , CM000667.1:g.52394506_52394509del	GRCh37
NC_000005.8:g.52430263_52430266del	NCBI36
NG_008435.2:g.16093_16096del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.502-9_502-6del MANE Select	ENSP00000380157.3:n.502-9_502-6del
ENST00000450852.8:c.*422-9_*422-6del MANE Plus Clinical	ENSP00000411022.3:n.*422-9_*422-6del
ENST00000361377.8:c.*271-9_*271-6del	ENSP00000355160.4:n.*271-9_*271-6del
ENST00000396954.7:c.502-9_502-6del	ENSP00000380157.3:n.502-9_502-6del
ENST00000450852.7:c.*422-9_*422-6del	ENSP00000411022.3:n.*422-9_*422-6del
ENST00000502402.5:n.2249-9_2249-6del
ENST00000508922.5:c.*333_*336del	ENSP00000426274.1:n.*333_*336del
ENST00000510818.6:c.*375-9_*375-6del	ENSP00000424267.2:n.*375-9_*375-6del
ENST00000582677.5:c.*143-9_*143-6del	ENSP00000462870.1:n.*143-9_*143-6del
ENST00000584946.5:c.*294-9_*294-6del	ENSP00000464663.1:n.*294-9_*294-6del
NM_004531.4:c.502-9_502-6del	NP_004522.1:n.502-9_502-6del
NM_176806.3:c.*422-9_*422-6del	NP_789776.1:n.*422-9_*422-6del
NM_004531.5:c.502-9_502-6del MANE Select	NP_004522.1:n.502-9_502-6del
NM_176806.4:c.*422-9_*422-6del MANE Plus Clinical	NP_789776.1:n.*422-9_*422-6del