Canonical Allele Identifier: CA9226874

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 2676425
• ClinVar RCV Id: RCV003461824
• dbSNP Id: rs746868162
• ExAC: 19:12776537 AC / A
• gnomAD v2: 19-12776537-AC-A
• gnomAD v4: 19-12665723-AC-A
• MyVariant Identifiers: chr19:g.12776538del (hg19) ; chr19:g.12665724del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665724del , CM000681.2:g.12665724del	GRCh38
NC_000019.9:g.12776538del , CM000681.1:g.12776538del	GRCh37
NC_000019.8:g.12637538del	NCBI36
NG_008318.1:g.6054del
NG_015814.1:g.3921del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.241del MANE Select	ENSP00000395473.2:p.Val81TrpfsTer?
ENST00000221363.8:c.241del	ENSP00000221363.4:p.Val81TrpfsTer?
ENST00000456935.6:c.241del	ENSP00000395473.2:p.Val81TrpfsTer?
ENST00000466794.5:n.223del
ENST00000486847.2:c.160-199del	ENSP00000470174.1:n.160-199del
ENST00000596512.5:n.201-199del
ENST00000597961.1:c.232del	ENSP00000472710.1:p.Val78TrpfsTer?
ENST00000598876.1:c.268del	ENSP00000470533.1:p.Val90TrpfsTer?
ENST00000600281.1:n.282del
NM_000528.3:c.241del	NP_000519.2:p.Val81TrpfsTer?
NM_001173498.1:c.241del	NP_001166969.1:p.Val81TrpfsTer?
XM_005259913.1:c.241del	XP_005259970.1:p.Val81TrpfsTer?
XM_005259913.2:c.241del	XP_005259970.1:p.Val81TrpfsTer?
XM_024451518.1:c.-778del	XP_024307286.1:n.-778del
NM_000528.4:c.241del MANE Select	NP_000519.2:p.Val81TrpfsTer?
NM_001173498.2:c.241del	NP_001166969.1:p.Val81TrpfsTer?