Canonical Allele Identifier: CA359692580

Gene: MOCS2

Linked Data

• dbSNP Id: rs1459472912
• gnomAD v2: 5-52394452-A-G
• gnomAD v4: 5-53098622-A-G
• MyVariant Identifiers: chr5:g.52394452A>G (hg19) ; chr5:g.53098622A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098622A>G , CM000667.2:g.53098622A>G	GRCh38
NC_000005.9:g.52394452A>G , CM000667.1:g.52394452A>G	GRCh37
NC_000005.8:g.52430209A>G	NCBI36
NG_008435.2:g.16147T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.547T>C MANE Select	ENSP00000380157.3:p.Phe183Leu
ENST00000450852.8:c.*467T>C MANE Plus Clinical	ENSP00000411022.3:n.*467T>C
ENST00000361377.8:c.*316T>C	ENSP00000355160.4:n.*316T>C
ENST00000396954.7:c.547T>C	ENSP00000380157.3:p.Phe183Leu
ENST00000450852.7:c.*467T>C	ENSP00000411022.3:n.*467T>C
ENST00000502402.5:n.2294T>C
ENST00000508922.5:c.*387T>C	ENSP00000426274.1:n.*387T>C
ENST00000510818.6:c.*420T>C	ENSP00000424267.2:n.*420T>C
ENST00000582677.5:c.*188T>C	ENSP00000462870.1:n.*188T>C
ENST00000584946.5:c.*339T>C	ENSP00000464663.1:n.*339T>C
NM_004531.4:c.547T>C	NP_004522.1:p.Phe183Leu
NM_176806.3:c.*467T>C	NP_789776.1:n.*467T>C
NM_004531.5:c.547T>C MANE Select	NP_004522.1:p.Phe183Leu
NM_176806.4:c.*467T>C MANE Plus Clinical	NP_789776.1:n.*467T>C