Canonical Allele Identifier: CA359693662

Gene: MOCS2

Linked Data

• gnomAD v4: 5-53107098-T-C
• MyVariant Identifiers: chr5:g.52402928T>C (hg19) ; chr5:g.53107098T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53107098T>C , CM000667.2:g.53107098T>C	GRCh38
NC_000005.9:g.52402928T>C , CM000667.1:g.52402928T>C	GRCh37
NC_000005.8:g.52438685T>C	NCBI36
NG_008435.2:g.7671A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.77A>G MANE Select	ENSP00000380157.3:p.Asp26Gly
ENST00000450852.8:c.264A>G MANE Plus Clinical	ENSP00000411022.3:p.Gly88=
ENST00000361377.8:c.264A>G	ENSP00000355160.4:p.Gly88=
ENST00000396954.7:c.77A>G	ENSP00000380157.3:p.Asp26Gly
ENST00000450852.7:c.264A>G	ENSP00000411022.3:p.Gly88=
ENST00000502402.5:n.1000A>G
ENST00000508922.5:c.264A>G	ENSP00000426274.1:p.Gly88=
ENST00000510818.6:c.264A>G	ENSP00000424267.2:p.Gly88=
ENST00000514553.2:n.262A>G
ENST00000527216.5:c.249A>G	ENSP00000435326.1:p.Gly83=
ENST00000582677.5:c.264A>G	ENSP00000462870.1:p.Gly88=
ENST00000584946.5:c.264A>G	ENSP00000464663.1:p.Gly88=
NM_004531.4:c.77A>G	NP_004522.1:p.Asp26Gly
NM_176806.3:c.264A>G	NP_789776.1:p.Gly88=
NM_004531.5:c.77A>G MANE Select	NP_004522.1:p.Asp26Gly
NM_176806.4:c.264A>G MANE Plus Clinical	NP_789776.1:p.Gly88=