Canonical Allele Identifier: CA444164257

Gene: MOCS2

Linked Data

• gnomAD v4: 5-53098653-C-T
• MyVariant Identifiers: chr5:g.52394483C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098653C>T , CM000667.2:g.53098653C>T	GRCh38
NC_000005.9:g.52394483C>T , CM000667.1:g.52394483C>T	GRCh37
NC_000005.8:g.52430240C>T	NCBI36
NG_008435.2:g.16116G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.516G>A MANE Select	ENSP00000380157.3:p.Glu172=
ENST00000450852.8:c.*436G>A MANE Plus Clinical	ENSP00000411022.3:n.*436G>A
ENST00000361377.8:c.*285G>A	ENSP00000355160.4:n.*285G>A
ENST00000396954.7:c.516G>A	ENSP00000380157.3:p.Glu172=
ENST00000450852.7:c.*436G>A	ENSP00000411022.3:n.*436G>A
ENST00000502402.5:n.2263G>A
ENST00000508922.5:c.*356G>A	ENSP00000426274.1:n.*356G>A
ENST00000510818.6:c.*389G>A	ENSP00000424267.2:n.*389G>A
ENST00000582677.5:c.*157G>A	ENSP00000462870.1:n.*157G>A
ENST00000584946.5:c.*308G>A	ENSP00000464663.1:n.*308G>A
NM_004531.4:c.516G>A	NP_004522.1:p.Glu172=
NM_176806.3:c.*436G>A	NP_789776.1:n.*436G>A
NM_004531.5:c.516G>A MANE Select	NP_004522.1:p.Glu172=
NM_176806.4:c.*436G>A MANE Plus Clinical	NP_789776.1:n.*436G>A