Canonical Allele Identifier: CA917474446

Gene: MOCS2

Linked Data

• dbSNP Id: rs1472986888
• gnomAD v3: 5-53098694-TA-T
• gnomAD v4: 5-53098694-TA-T

Genomic Alleles

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

Transcript Alleles

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