Canonical Allele Identifier: CA359692607

Gene: MOCS2

Linked Data

• MyVariant Identifiers: chr5:g.52394463T>C (hg19) ; chr5:g.53098633T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098633T>C , CM000667.2:g.53098633T>C	GRCh38
NC_000005.9:g.52394463T>C , CM000667.1:g.52394463T>C	GRCh37
NC_000005.8:g.52430220T>C	NCBI36
NG_008435.2:g.16136A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000396954.8:c.536A>G MANE Select	ENSP00000380157.3:p.Asn179Ser
ENST00000450852.8:c.*456A>G MANE Plus Clinical	ENSP00000411022.3:n.*456A>G
ENST00000361377.8:c.*305A>G	ENSP00000355160.4:n.*305A>G
ENST00000396954.7:c.536A>G	ENSP00000380157.3:p.Asn179Ser
ENST00000450852.7:c.*456A>G	ENSP00000411022.3:n.*456A>G
ENST00000502402.5:n.2283A>G
ENST00000508922.5:c.*376A>G	ENSP00000426274.1:n.*376A>G
ENST00000510818.6:c.*409A>G	ENSP00000424267.2:n.*409A>G
ENST00000582677.5:c.*177A>G	ENSP00000462870.1:n.*177A>G
ENST00000584946.5:c.*328A>G	ENSP00000464663.1:n.*328A>G
NM_004531.4:c.536A>G	NP_004522.1:p.Asn179Ser
NM_176806.3:c.*456A>G	NP_789776.1:n.*456A>G
NM_004531.5:c.536A>G MANE Select	NP_004522.1:p.Asn179Ser
NM_176806.4:c.*456A>G MANE Plus Clinical	NP_789776.1:n.*456A>G