Canonical Allele Identifier: CA3263584

Gene: MOCS2

Linked Data

• dbSNP Id: rs760402391
• ExAC: 5:52394483 C / A
• gnomAD v2: 5-52394483-C-A
• gnomAD v4: 5-53098653-C-A
• MyVariant Identifiers: chr5:g.52394483C>A (hg19) ; chr5:g.53098653C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.516G>T MANE Select	ENSP00000380157.3:p.Glu172Asp
ENST00000450852.8:c.*436G>T MANE Plus Clinical	ENSP00000411022.3:n.*436G>T
ENST00000361377.8:c.*285G>T	ENSP00000355160.4:n.*285G>T
ENST00000396954.7:c.516G>T	ENSP00000380157.3:p.Glu172Asp
ENST00000450852.7:c.*436G>T	ENSP00000411022.3:n.*436G>T
ENST00000502402.5:n.2263G>T
ENST00000508922.5:c.*356G>T	ENSP00000426274.1:n.*356G>T
ENST00000510818.6:c.*389G>T	ENSP00000424267.2:n.*389G>T
ENST00000582677.5:c.*157G>T	ENSP00000462870.1:n.*157G>T
ENST00000584946.5:c.*308G>T	ENSP00000464663.1:n.*308G>T
NM_004531.4:c.516G>T	NP_004522.1:p.Glu172Asp
NM_176806.3:c.*436G>T	NP_789776.1:n.*436G>T
NM_004531.5:c.516G>T MANE Select	NP_004522.1:p.Glu172Asp
NM_176806.4:c.*436G>T MANE Plus Clinical	NP_789776.1:n.*436G>T