Canonical Allele Identifier: CA118892110

Gene: MOCS2

Linked Data

• ClinVar Variation Id: 2030776
• ClinVar RCV Id: RCV002871954
• dbSNP Id: rs2233211
• MyVariant Identifiers: chr5:g.52403001A>C (hg19) ; chr5:g.53107171A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53107171A>C , CM000667.2:g.53107171A>C	GRCh38
NC_000005.9:g.52403001A>C , CM000667.1:g.52403001A>C	GRCh37
NC_000005.8:g.52438758A>C	NCBI36
NG_008435.2:g.7598T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.4T>G MANE Select	ENSP00000380157.3:p.Ser2Ala
ENST00000450852.8:c.191T>G MANE Plus Clinical	ENSP00000411022.3:p.Val64Gly
ENST00000361377.8:c.191T>G	ENSP00000355160.4:p.Val64Gly
ENST00000396954.7:c.4T>G	ENSP00000380157.3:p.Ser2Ala
ENST00000450852.7:c.191T>G	ENSP00000411022.3:p.Val64Gly
ENST00000502402.5:n.927T>G
ENST00000508922.5:c.191T>G	ENSP00000426274.1:p.Val64Gly
ENST00000510818.6:c.191T>G	ENSP00000424267.2:p.Val64Gly
ENST00000514553.2:n.189T>G
ENST00000527216.5:c.176T>G	ENSP00000435326.1:p.Val59Gly
ENST00000582677.5:c.191T>G	ENSP00000462870.1:p.Val64Gly
ENST00000584946.5:c.191T>G	ENSP00000464663.1:p.Val64Gly
NM_004531.4:c.4T>G	NP_004522.1:p.Ser2Ala
NM_176806.3:c.191T>G	NP_789776.1:p.Val64Gly
NM_004531.5:c.4T>G MANE Select	NP_004522.1:p.Ser2Ala
NM_176806.4:c.191T>G MANE Plus Clinical	NP_789776.1:p.Val64Gly