Canonical Allele Identifier: CA359693799

Gene: MOCS2

Linked Data

• MyVariant Identifiers: chr5:g.52402981G>C (hg19) ; chr5:g.53107151G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53107151G>C , CM000667.2:g.53107151G>C	GRCh38
NC_000005.9:g.52402981G>C , CM000667.1:g.52402981G>C	GRCh37
NC_000005.8:g.52438738G>C	NCBI36
NG_008435.2:g.7618C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.24C>G MANE Select	ENSP00000380157.3:p.Ser8=
ENST00000450852.8:c.211C>G MANE Plus Clinical	ENSP00000411022.3:p.Leu71Val
ENST00000361377.8:c.211C>G	ENSP00000355160.4:p.Leu71Val
ENST00000396954.7:c.24C>G	ENSP00000380157.3:p.Ser8=
ENST00000450852.7:c.211C>G	ENSP00000411022.3:p.Leu71Val
ENST00000502402.5:n.947C>G
ENST00000508922.5:c.211C>G	ENSP00000426274.1:p.Leu71Val
ENST00000510818.6:c.211C>G	ENSP00000424267.2:p.Leu71Val
ENST00000514553.2:n.209C>G
ENST00000527216.5:c.196C>G	ENSP00000435326.1:p.Leu66Val
ENST00000582677.5:c.211C>G	ENSP00000462870.1:p.Leu71Val
ENST00000584946.5:c.211C>G	ENSP00000464663.1:p.Leu71Val
NM_004531.4:c.24C>G	NP_004522.1:p.Ser8=
NM_176806.3:c.211C>G	NP_789776.1:p.Leu71Val
NM_004531.5:c.24C>G MANE Select	NP_004522.1:p.Ser8=
NM_176806.4:c.211C>G MANE Plus Clinical	NP_789776.1:p.Leu71Val