Canonical Allele Identifier: CA3263800

Gene: MOCS2

Linked Data

• ClinVar Variation Id: 353882
• ClinVar RCV Id: RCV000354658 ; RCV001427397
• dbSNP Id: rs773035025
• ExAC: 5:52404375 C / T
• gnomAD v2: 5-52404375-C-T
• gnomAD v3: 5-53108545-C-T
• gnomAD v4: 5-53108545-C-T
• MyVariant Identifiers: chr5:g.52404375C>T (hg19) ; chr5:g.53108545C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53108545C>T , CM000667.2:g.53108545C>T	GRCh38
NC_000005.9:g.52404375C>T , CM000667.1:g.52404375C>T	GRCh37
NC_000005.8:g.52440132C>T	NCBI36
NG_008435.2:g.6224G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.-71G>A MANE Select	ENSP00000380157.3:n.-71G>A
ENST00000450852.8:c.117G>A MANE Plus Clinical	ENSP00000411022.3:p.Lys39=
ENST00000361377.8:c.117G>A	ENSP00000355160.4:p.Lys39=
ENST00000396954.7:c.-71G>A	ENSP00000380157.3:n.-71G>A
ENST00000450852.7:c.117G>A	ENSP00000411022.3:p.Lys39=
ENST00000508922.5:c.117G>A	ENSP00000426274.1:p.Lys39=
ENST00000510818.6:c.117G>A	ENSP00000424267.2:p.Lys39=
ENST00000514553.2:n.115G>A
ENST00000527216.5:c.102G>A	ENSP00000435326.1:p.Lys34=
ENST00000582677.5:c.117G>A	ENSP00000462870.1:p.Lys39=
ENST00000584946.5:c.117G>A	ENSP00000464663.1:p.Lys39=
NM_004531.4:c.-71G>A	NP_004522.1:n.-71G>A
NM_176806.3:c.117G>A	NP_789776.1:p.Lys39=
NM_004531.5:c.-71G>A MANE Select	NP_004522.1:n.-71G>A
NM_176806.4:c.117G>A MANE Plus Clinical	NP_789776.1:p.Lys39=