Canonical Allele Identifier: CA359692554

Gene: MOCS2

Linked Data

• MyVariant Identifiers: chr5:g.52394440T>G (hg19) ; chr5:g.53098610T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098610T>G , CM000667.2:g.53098610T>G	GRCh38
NC_000005.9:g.52394440T>G , CM000667.1:g.52394440T>G	GRCh37
NC_000005.8:g.52430197T>G	NCBI36
NG_008435.2:g.16159A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000396954.8:c.559A>C MANE Select	ENSP00000380157.3:p.Asn187His
ENST00000450852.8:c.*479A>C MANE Plus Clinical	ENSP00000411022.3:n.*479A>C
ENST00000361377.8:c.*328A>C	ENSP00000355160.4:n.*328A>C
ENST00000396954.7:c.559A>C	ENSP00000380157.3:p.Asn187His
ENST00000450852.7:c.*479A>C	ENSP00000411022.3:n.*479A>C
ENST00000502402.5:n.2306A>C
ENST00000508922.5:c.*399A>C	ENSP00000426274.1:n.*399A>C
ENST00000510818.6:c.*432A>C	ENSP00000424267.2:n.*432A>C
ENST00000582677.5:c.*200A>C	ENSP00000462870.1:n.*200A>C
ENST00000584946.5:c.*351A>C	ENSP00000464663.1:n.*351A>C
NM_004531.4:c.559A>C	NP_004522.1:p.Asn187His
NM_176806.3:c.*479A>C	NP_789776.1:n.*479A>C
NM_004531.5:c.559A>C MANE Select	NP_004522.1:p.Asn187His
NM_176806.4:c.*479A>C MANE Plus Clinical	NP_789776.1:n.*479A>C