Canonical Allele Identifier: CA631836873

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1430660233
• gnomAD v2: 19-12772174-GT-G
• gnomAD v4: 19-12661360-GT-G
• MyVariant Identifiers: chr19:g.12772175del (hg19) ; chr19:g.12661361del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12661361del , CM000681.2:g.12661361del	GRCh38
NC_000019.9:g.12772175del , CM000681.1:g.12772175del	GRCh37
NC_000019.8:g.12633175del	NCBI36
NG_008318.1:g.10417del

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.925del MANE Select	ENSP00000395473.2:p.Thr309ProfsTer5
ENST00000221363.8:c.925del	ENSP00000221363.4:p.Thr309ProfsTer5
ENST00000456935.6:c.925del	ENSP00000395473.2:p.Thr309ProfsTer5
ENST00000462144.1:n.118del
ENST00000466794.5:n.907del
NM_000528.3:c.925del	NP_000519.2:p.Thr309ProfsTer5
NM_001173498.1:c.925del	NP_001166969.1:p.Thr309ProfsTer5
XM_005259913.1:c.925del	XP_005259970.1:p.Thr309ProfsTer5
XM_011528017.1:c.-94del	XP_011526319.1:n.-94del
XM_005259913.2:c.925del	XP_005259970.1:p.Thr309ProfsTer5
XM_024451518.1:c.-94del	XP_024307286.1:n.-94del
NM_000528.4:c.925del MANE Select	NP_000519.2:p.Thr309ProfsTer5
NM_001173498.2:c.925del	NP_001166969.1:p.Thr309ProfsTer5