Canonical Allele Identifier: CA3263577

Gene: MOCS2

Linked Data

• ClinVar Variation Id: 1169214
• ClinVar RCV Id: RCV001520159 ; RCV003921154
• dbSNP Id: rs2233221
• ExAC: 5:52394439 T / C
• gnomAD v2: 5-52394439-T-C
• gnomAD v3: 5-53098609-T-C
• gnomAD v4: 5-53098609-T-C
• MyVariant Identifiers: chr5:g.52394439T>C (hg19) ; chr5:g.53098609T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098609T>C , CM000667.2:g.53098609T>C	GRCh38
NC_000005.9:g.52394439T>C , CM000667.1:g.52394439T>C	GRCh37
NC_000005.8:g.52430196T>C	NCBI36
NG_008435.2:g.16160A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000396954.8:c.560A>G MANE Select	ENSP00000380157.3:p.Asn187Ser
ENST00000450852.8:c.*480A>G MANE Plus Clinical	ENSP00000411022.3:n.*480A>G
ENST00000361377.8:c.*329A>G	ENSP00000355160.4:n.*329A>G
ENST00000396954.7:c.560A>G	ENSP00000380157.3:p.Asn187Ser
ENST00000450852.7:c.*480A>G	ENSP00000411022.3:n.*480A>G
ENST00000502402.5:n.2307A>G
ENST00000508922.5:c.*400A>G	ENSP00000426274.1:n.*400A>G
ENST00000510818.6:c.*433A>G	ENSP00000424267.2:n.*433A>G
ENST00000582677.5:c.*201A>G	ENSP00000462870.1:n.*201A>G
ENST00000584946.5:c.*352A>G	ENSP00000464663.1:n.*352A>G
NM_004531.4:c.560A>G	NP_004522.1:p.Asn187Ser
NM_176806.3:c.*480A>G	NP_789776.1:n.*480A>G
NM_004531.5:c.560A>G MANE Select	NP_004522.1:p.Asn187Ser
NM_176806.4:c.*480A>G MANE Plus Clinical	NP_789776.1:n.*480A>G