Canonical Allele Identifier: CA559320440

Gene: MOCS2

Linked Data

• dbSNP Id: rs1354681374
• gnomAD v2: 5-52394359-G-GA
• gnomAD v3: 5-53098529-G-GA
• gnomAD v4: 5-53098529-G-GA
• MyVariant Identifiers: chr5:g.52394359_52394360insA (hg19) ; chr5:g.53098529_53098530insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098536dup , CM000667.2:g.53098536dup	GRCh38
NC_000005.9:g.52394366dup , CM000667.1:g.52394366dup	GRCh37
NC_000005.8:g.52430123dup	NCBI36
NG_008435.2:g.16239dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000396954.8:c.*72dup MANE Select	ENSP00000380157.3:n.*72dup
ENST00000450852.8:c.*559dup MANE Plus Clinical	ENSP00000411022.3:n.*559dup
ENST00000361377.8:c.*408dup	ENSP00000355160.4:n.*408dup
ENST00000396954.7:c.*72dup	ENSP00000380157.3:n.*72dup
ENST00000450852.7:c.*559dup	ENSP00000411022.3:n.*559dup
ENST00000502402.5:n.2386dup
ENST00000508922.5:c.*479dup	ENSP00000426274.1:n.*479dup
ENST00000510818.6:c.*512dup	ENSP00000424267.2:n.*512dup
ENST00000582677.5:c.*280dup	ENSP00000462870.1:n.*280dup
NM_004531.4:c.*72dup	NP_004522.1:n.*72dup
NM_176806.3:c.*559dup	NP_789776.1:n.*559dup
NM_004531.5:c.*72dup MANE Select	NP_004522.1:n.*72dup
NM_176806.4:c.*559dup MANE Plus Clinical	NP_789776.1:n.*559dup