Canonical Allele Identifier: CA359692559

Gene: MOCS2

Linked Data

• MyVariant Identifiers: chr5:g.52394443A>T (hg19) ; chr5:g.53098613A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098613A>T , CM000667.2:g.53098613A>T	GRCh38
NC_000005.9:g.52394443A>T , CM000667.1:g.52394443A>T	GRCh37
NC_000005.8:g.52430200A>T	NCBI36
NG_008435.2:g.16156T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000396954.8:c.556T>A MANE Select	ENSP00000380157.3:p.Ser186Thr
ENST00000450852.8:c.*476T>A MANE Plus Clinical	ENSP00000411022.3:n.*476T>A
ENST00000361377.8:c.*325T>A	ENSP00000355160.4:n.*325T>A
ENST00000396954.7:c.556T>A	ENSP00000380157.3:p.Ser186Thr
ENST00000450852.7:c.*476T>A	ENSP00000411022.3:n.*476T>A
ENST00000502402.5:n.2303T>A
ENST00000508922.5:c.*396T>A	ENSP00000426274.1:n.*396T>A
ENST00000510818.6:c.*429T>A	ENSP00000424267.2:n.*429T>A
ENST00000582677.5:c.*197T>A	ENSP00000462870.1:n.*197T>A
ENST00000584946.5:c.*348T>A	ENSP00000464663.1:n.*348T>A
NM_004531.4:c.556T>A	NP_004522.1:p.Ser186Thr
NM_176806.3:c.*476T>A	NP_789776.1:n.*476T>A
NM_004531.5:c.556T>A MANE Select	NP_004522.1:p.Ser186Thr
NM_176806.4:c.*476T>A MANE Plus Clinical	NP_789776.1:n.*476T>A