Canonical Allele Identifier: CA559320450

Gene: MOCS2

Linked Data

• dbSNP Id: rs1472986888
• gnomAD v2: 5-52394524-T-TA
• gnomAD v4: 5-53098694-T-TA
• MyVariant Identifiers: chr5:g.52394524_52394525insA (hg19) ; chr5:g.53098694_53098695insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53098699dup , CM000667.2:g.53098699dup	GRCh38
NC_000005.9:g.52394529dup , CM000667.1:g.52394529dup	GRCh37
NC_000005.8:g.52430286dup	NCBI36
NG_008435.2:g.16074dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396954.8:c.502-28dup MANE Select	ENSP00000380157.3:n.502-28dup
ENST00000450852.8:c.*422-28dup MANE Plus Clinical	ENSP00000411022.3:n.*422-28dup
ENST00000361377.8:c.*271-28dup	ENSP00000355160.4:n.*271-28dup
ENST00000396954.7:c.502-28dup	ENSP00000380157.3:n.502-28dup
ENST00000450852.7:c.*422-28dup	ENSP00000411022.3:n.*422-28dup
ENST00000502402.5:n.2249-28dup
ENST00000508922.5:c.*314dup	ENSP00000426274.1:n.*314dup
ENST00000510818.6:c.*375-28dup	ENSP00000424267.2:n.*375-28dup
ENST00000582677.5:c.*143-28dup	ENSP00000462870.1:n.*143-28dup
ENST00000584946.5:c.*294-28dup	ENSP00000464663.1:n.*294-28dup
NM_004531.4:c.502-28dup	NP_004522.1:n.502-28dup
NM_176806.3:c.*422-28dup	NP_789776.1:n.*422-28dup
NM_004531.5:c.502-28dup MANE Select	NP_004522.1:n.502-28dup
NM_176806.4:c.*422-28dup MANE Plus Clinical	NP_789776.1:n.*422-28dup