Canonical Allele Identifier: CA359693645

Gene: MOCS2

Linked Data

• ClinVar Variation Id: 1994971
• ClinVar RCV Id: RCV002791532
• MyVariant Identifiers: chr5:g.52402920A>G (hg19) ; chr5:g.53107090A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53107090A>G , CM000667.2:g.53107090A>G	GRCh38
NC_000005.9:g.52402920A>G , CM000667.1:g.52402920A>G	GRCh37
NC_000005.8:g.52438677A>G	NCBI36
NG_008435.2:g.7679T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.85T>C MANE Select	ENSP00000380157.3:p.Phe29Leu
ENST00000450852.8:c.*5T>C MANE Plus Clinical	ENSP00000411022.3:n.*5T>C
ENST00000361377.8:c.*5T>C	ENSP00000355160.4:n.*5T>C
ENST00000396954.7:c.85T>C	ENSP00000380157.3:p.Phe29Leu
ENST00000450852.7:c.*5T>C	ENSP00000411022.3:n.*5T>C
ENST00000502402.5:n.1008T>C
ENST00000508922.5:c.*5T>C	ENSP00000426274.1:n.*5T>C
ENST00000510818.6:c.*5T>C	ENSP00000424267.2:n.*5T>C
ENST00000514553.2:n.270T>C
ENST00000527216.5:c.*5T>C	ENSP00000435326.1:n.*5T>C
ENST00000582677.5:c.*5T>C	ENSP00000462870.1:n.*5T>C
ENST00000584946.5:c.*5T>C	ENSP00000464663.1:n.*5T>C
NM_004531.4:c.85T>C	NP_004522.1:p.Phe29Leu
NM_176806.3:c.*5T>C	NP_789776.1:n.*5T>C
NM_004531.5:c.85T>C MANE Select	NP_004522.1:p.Phe29Leu
NM_176806.4:c.*5T>C MANE Plus Clinical	NP_789776.1:n.*5T>C