Canonical Allele Identifier: CA359693904

Gene: MOCS2

Linked Data

• MyVariant Identifiers: chr5:g.52403025A>C (hg19) ; chr5:g.53107195A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53107195A>C , CM000667.2:g.53107195A>C	GRCh38
NC_000005.9:g.52403025A>C , CM000667.1:g.52403025A>C	GRCh37
NC_000005.8:g.52438782A>C	NCBI36
NG_008435.2:g.7574T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.-21T>G MANE Select	ENSP00000380157.3:n.-21T>G
ENST00000450852.8:c.167T>G MANE Plus Clinical	ENSP00000411022.3:p.Ile56Arg
ENST00000361377.8:c.167T>G	ENSP00000355160.4:p.Ile56Arg
ENST00000396954.7:c.-21T>G	ENSP00000380157.3:n.-21T>G
ENST00000450852.7:c.167T>G	ENSP00000411022.3:p.Ile56Arg
ENST00000502402.5:n.903T>G
ENST00000508922.5:c.167T>G	ENSP00000426274.1:p.Ile56Arg
ENST00000510818.6:c.167T>G	ENSP00000424267.2:p.Ile56Arg
ENST00000514553.2:n.165T>G
ENST00000527216.5:c.152T>G	ENSP00000435326.1:p.Ile51Arg
ENST00000582677.5:c.167T>G	ENSP00000462870.1:p.Ile56Arg
ENST00000584946.5:c.167T>G	ENSP00000464663.1:p.Ile56Arg
NM_004531.4:c.-21T>G	NP_004522.1:n.-21T>G
NM_176806.3:c.167T>G	NP_789776.1:p.Ile56Arg
NM_004531.5:c.-21T>G MANE Select	NP_004522.1:n.-21T>G
NM_176806.4:c.167T>G MANE Plus Clinical	NP_789776.1:p.Ile56Arg