Canonical Allele Identifier: CA3263562

Gene: MOCS2

Linked Data

• ClinVar Variation Id: 353875
• ClinVar RCV Id: RCV000381148 ; RCV000386161 ; RCV001154473
• dbSNP Id: rs367775935
• ExAC: 5:52394388 T / G
• gnomAD v2: 5-52394388-T-G
• gnomAD v3: 5-53098558-T-G
• gnomAD v4: 5-53098558-T-G
• MyVariant Identifiers: chr5:g.52394388T>G (hg19) ; chr5:g.53098558T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098558T>G , CM000667.2:g.53098558T>G	GRCh38
NC_000005.9:g.52394388T>G , CM000667.1:g.52394388T>G	GRCh37
NC_000005.8:g.52430145T>G	NCBI36
NG_008435.2:g.16211A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000396954.8:c.*44A>C MANE Select	ENSP00000380157.3:n.*44A>C
ENST00000450852.8:c.*531A>C MANE Plus Clinical	ENSP00000411022.3:n.*531A>C
ENST00000361377.8:c.*380A>C	ENSP00000355160.4:n.*380A>C
ENST00000396954.7:c.*44A>C	ENSP00000380157.3:n.*44A>C
ENST00000450852.7:c.*531A>C	ENSP00000411022.3:n.*531A>C
ENST00000502402.5:n.2358A>C
ENST00000508922.5:c.*451A>C	ENSP00000426274.1:n.*451A>C
ENST00000510818.6:c.*484A>C	ENSP00000424267.2:n.*484A>C
ENST00000582677.5:c.*252A>C	ENSP00000462870.1:n.*252A>C
ENST00000584946.5:c.*403A>C	ENSP00000464663.1:n.*403A>C
NM_004531.4:c.*44A>C	NP_004522.1:n.*44A>C
NM_176806.3:c.*531A>C	NP_789776.1:n.*531A>C
NM_004531.5:c.*44A>C MANE Select	NP_004522.1:n.*44A>C
NM_176806.4:c.*531A>C MANE Plus Clinical	NP_789776.1:n.*531A>C