Canonical Allele Identifier: CA812031539

Gene: MOCS2

Linked Data

• dbSNP Id: rs1465000758
• gnomAD v3: 5-53098569-A-C
• gnomAD v4: 5-53098569-A-C
• MyVariant Identifiers: chr5:g.52394399A>C (hg19) ; chr5:g.53098569A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098569A>C , CM000667.2:g.53098569A>C	GRCh38
NC_000005.9:g.52394399A>C , CM000667.1:g.52394399A>C	GRCh37
NC_000005.8:g.52430156A>C	NCBI36
NG_008435.2:g.16200T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000396954.8:c.*33T>G MANE Select	ENSP00000380157.3:n.*33T>G
ENST00000450852.8:c.*520T>G MANE Plus Clinical	ENSP00000411022.3:n.*520T>G
ENST00000361377.8:c.*369T>G	ENSP00000355160.4:n.*369T>G
ENST00000396954.7:c.*33T>G	ENSP00000380157.3:n.*33T>G
ENST00000450852.7:c.*520T>G	ENSP00000411022.3:n.*520T>G
ENST00000502402.5:n.2347T>G
ENST00000508922.5:c.*440T>G	ENSP00000426274.1:n.*440T>G
ENST00000510818.6:c.*473T>G	ENSP00000424267.2:n.*473T>G
ENST00000582677.5:c.*241T>G	ENSP00000462870.1:n.*241T>G
ENST00000584946.5:c.*392T>G	ENSP00000464663.1:n.*392T>G
NM_004531.4:c.*33T>G	NP_004522.1:n.*33T>G
NM_176806.3:c.*520T>G	NP_789776.1:n.*520T>G
NM_004531.5:c.*33T>G MANE Select	NP_004522.1:n.*33T>G
NM_176806.4:c.*520T>G MANE Plus Clinical	NP_789776.1:n.*520T>G