Canonical Allele Identifier: CA359693850

Gene: MOCS2

Linked Data

• dbSNP Id: rs1300378829
• gnomAD v2: 5-52402999-C-G
• gnomAD v3: 5-53107169-C-G
• gnomAD v4: 5-53107169-C-G
• MyVariant Identifiers: chr5:g.52402999C>G (hg19) ; chr5:g.53107169C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53107169C>G , CM000667.2:g.53107169C>G	GRCh38
NC_000005.9:g.52402999C>G , CM000667.1:g.52402999C>G	GRCh37
NC_000005.8:g.52438756C>G	NCBI36
NG_008435.2:g.7600G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.6G>C MANE Select	ENSP00000380157.3:p.Ser2=
ENST00000450852.8:c.193G>C MANE Plus Clinical	ENSP00000411022.3:p.Glu65Gln
ENST00000361377.8:c.193G>C	ENSP00000355160.4:p.Glu65Gln
ENST00000396954.7:c.6G>C	ENSP00000380157.3:p.Ser2=
ENST00000450852.7:c.193G>C	ENSP00000411022.3:p.Glu65Gln
ENST00000502402.5:n.929G>C
ENST00000508922.5:c.193G>C	ENSP00000426274.1:p.Glu65Gln
ENST00000510818.6:c.193G>C	ENSP00000424267.2:p.Glu65Gln
ENST00000514553.2:n.191G>C
ENST00000527216.5:c.178G>C	ENSP00000435326.1:p.Glu60Gln
ENST00000582677.5:c.193G>C	ENSP00000462870.1:p.Glu65Gln
ENST00000584946.5:c.193G>C	ENSP00000464663.1:p.Glu65Gln
NM_004531.4:c.6G>C	NP_004522.1:p.Ser2=
NM_176806.3:c.193G>C	NP_789776.1:p.Glu65Gln
NM_004531.5:c.6G>C MANE Select	NP_004522.1:p.Ser2=
NM_176806.4:c.193G>C MANE Plus Clinical	NP_789776.1:p.Glu65Gln