Canonical Allele Identifier: CA3263745

Gene: MOCS2

Linked Data

• dbSNP Id: rs781425063
• ExAC: 5:52402916 T / C
• gnomAD v2: 5-52402916-T-C
• gnomAD v3: 5-53107086-T-C
• gnomAD v4: 5-53107086-T-C
• MyVariant Identifiers: chr5:g.52402916T>C (hg19) ; chr5:g.53107086T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53107086T>C , CM000667.2:g.53107086T>C	GRCh38
NC_000005.9:g.52402916T>C , CM000667.1:g.52402916T>C	GRCh37
NC_000005.8:g.52438673T>C	NCBI36
NG_008435.2:g.7683A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.89A>G MANE Select	ENSP00000380157.3:p.Glu30Gly
ENST00000450852.8:c.*9A>G MANE Plus Clinical	ENSP00000411022.3:n.*9A>G
ENST00000361377.8:c.*9A>G	ENSP00000355160.4:n.*9A>G
ENST00000396954.7:c.89A>G	ENSP00000380157.3:p.Glu30Gly
ENST00000450852.7:c.*9A>G	ENSP00000411022.3:n.*9A>G
ENST00000502402.5:n.1012A>G
ENST00000508922.5:c.*9A>G	ENSP00000426274.1:n.*9A>G
ENST00000510818.6:c.*9A>G	ENSP00000424267.2:n.*9A>G
ENST00000514553.2:n.274A>G
ENST00000527216.5:c.*9A>G	ENSP00000435326.1:n.*9A>G
ENST00000582677.5:c.*9A>G	ENSP00000462870.1:n.*9A>G
ENST00000584946.5:c.*9A>G	ENSP00000464663.1:n.*9A>G
NM_004531.4:c.89A>G	NP_004522.1:p.Glu30Gly
NM_176806.3:c.*9A>G	NP_789776.1:n.*9A>G
NM_004531.5:c.89A>G MANE Select	NP_004522.1:p.Glu30Gly
NM_176806.4:c.*9A>G MANE Plus Clinical	NP_789776.1:n.*9A>G