Canonical Allele Identifier: CA3263566

Gene: MOCS2

Linked Data

• ClinVar Variation Id: 905759
• ClinVar RCV Id: RCV001154474
• dbSNP Id: rs374748835
• ExAC: 5:52394400 G / C
• gnomAD v2: 5-52394400-G-C
• gnomAD v3: 5-53098570-G-C
• gnomAD v4: 5-53098570-G-C
• MyVariant Identifiers: chr5:g.52394400G>C (hg19) ; chr5:g.53098570G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098570G>C , CM000667.2:g.53098570G>C	GRCh38
NC_000005.9:g.52394400G>C , CM000667.1:g.52394400G>C	GRCh37
NC_000005.8:g.52430157G>C	NCBI36
NG_008435.2:g.16199C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000396954.8:c.*32C>G MANE Select	ENSP00000380157.3:n.*32C>G
ENST00000450852.8:c.*519C>G MANE Plus Clinical	ENSP00000411022.3:n.*519C>G
ENST00000361377.8:c.*368C>G	ENSP00000355160.4:n.*368C>G
ENST00000396954.7:c.*32C>G	ENSP00000380157.3:n.*32C>G
ENST00000450852.7:c.*519C>G	ENSP00000411022.3:n.*519C>G
ENST00000502402.5:n.2346C>G
ENST00000508922.5:c.*439C>G	ENSP00000426274.1:n.*439C>G
ENST00000510818.6:c.*472C>G	ENSP00000424267.2:n.*472C>G
ENST00000582677.5:c.*240C>G	ENSP00000462870.1:n.*240C>G
ENST00000584946.5:c.*391C>G	ENSP00000464663.1:n.*391C>G
NM_004531.4:c.*32C>G	NP_004522.1:n.*32C>G
NM_176806.3:c.*519C>G	NP_789776.1:n.*519C>G
NM_004531.5:c.*32C>G MANE Select	NP_004522.1:n.*32C>G
NM_176806.4:c.*519C>G MANE Plus Clinical	NP_789776.1:n.*519C>G