Canonical Allele Identifier: CA3263590

Gene: MOCS2

Linked Data

• ClinVar Variation Id: 2703437
• ClinVar RCV Id: RCV003579315
• dbSNP Id: rs575030858
• ExAC: 5:52394512 C / T
• gnomAD v2: 5-52394512-C-T
• gnomAD v3: 5-53098682-C-T
• gnomAD v4: 5-53098682-C-T
• MyVariant Identifiers: chr5:g.52394512C>T (hg19) ; chr5:g.53098682C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098682C>T , CM000667.2:g.53098682C>T	GRCh38
NC_000005.9:g.52394512C>T , CM000667.1:g.52394512C>T	GRCh37
NC_000005.8:g.52430269C>T	NCBI36
NG_008435.2:g.16087G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.502-15G>A MANE Select	ENSP00000380157.3:n.502-15G>A
ENST00000450852.8:c.*422-15G>A MANE Plus Clinical	ENSP00000411022.3:n.*422-15G>A
ENST00000361377.8:c.*271-15G>A	ENSP00000355160.4:n.*271-15G>A
ENST00000396954.7:c.502-15G>A	ENSP00000380157.3:n.502-15G>A
ENST00000450852.7:c.*422-15G>A	ENSP00000411022.3:n.*422-15G>A
ENST00000502402.5:n.2249-15G>A
ENST00000508922.5:c.*327G>A	ENSP00000426274.1:n.*327G>A
ENST00000510818.6:c.*375-15G>A	ENSP00000424267.2:n.*375-15G>A
ENST00000582677.5:c.*143-15G>A	ENSP00000462870.1:n.*143-15G>A
ENST00000584946.5:c.*294-15G>A	ENSP00000464663.1:n.*294-15G>A
NM_004531.4:c.502-15G>A	NP_004522.1:n.502-15G>A
NM_176806.3:c.*422-15G>A	NP_789776.1:n.*422-15G>A
NM_004531.5:c.502-15G>A MANE Select	NP_004522.1:n.502-15G>A
NM_176806.4:c.*422-15G>A MANE Plus Clinical	NP_789776.1:n.*422-15G>A