Canonical Allele Identifier: CA3263583

Gene: MOCS2

Linked Data

• ClinVar Variation Id: 1119571
• ClinVar RCV Id: RCV001449045
• dbSNP Id: rs773157839
• ExAC: 5:52394465 T / C
• gnomAD v2: 5-52394465-T-C
• gnomAD v4: 5-53098635-T-C
• MyVariant Identifiers: chr5:g.52394465T>C (hg19) ; chr5:g.53098635T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098635T>C , CM000667.2:g.53098635T>C	GRCh38
NC_000005.9:g.52394465T>C , CM000667.1:g.52394465T>C	GRCh37
NC_000005.8:g.52430222T>C	NCBI36
NG_008435.2:g.16134A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000396954.8:c.534A>G MANE Select	ENSP00000380157.3:p.Gly178=
ENST00000450852.8:c.*454A>G MANE Plus Clinical	ENSP00000411022.3:n.*454A>G
ENST00000361377.8:c.*303A>G	ENSP00000355160.4:n.*303A>G
ENST00000396954.7:c.534A>G	ENSP00000380157.3:p.Gly178=
ENST00000450852.7:c.*454A>G	ENSP00000411022.3:n.*454A>G
ENST00000502402.5:n.2281A>G
ENST00000508922.5:c.*374A>G	ENSP00000426274.1:n.*374A>G
ENST00000510818.6:c.*407A>G	ENSP00000424267.2:n.*407A>G
ENST00000582677.5:c.*175A>G	ENSP00000462870.1:n.*175A>G
ENST00000584946.5:c.*326A>G	ENSP00000464663.1:n.*326A>G
NM_004531.4:c.534A>G	NP_004522.1:p.Gly178=
NM_176806.3:c.*454A>G	NP_789776.1:n.*454A>G
NM_004531.5:c.534A>G MANE Select	NP_004522.1:p.Gly178=
NM_176806.4:c.*454A>G MANE Plus Clinical	NP_789776.1:n.*454A>G