Canonical Allele Identifier: CA339901

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1687
• ClinVar RCV Id: RCV000001755 ; RCV000622985 ; RCV001091771
• dbSNP Id: rs80338680
• ExAC: 19:12760746 G / A
• gnomAD v2: 19-12760746-G-A
• gnomAD v3: 19-12649932-G-A
• gnomAD v4: 19-12649932-G-A
• MyVariant Identifiers: chr19:g.12760746G>A (hg19) ; chr19:g.12649932G>A (hg38)
• PubMed: PMID:7307317 ; PMID:9758606 ; PMID:9915946 ; PMID:12816222 ; PMID:15035660 ; PMID:18651971 ; PMID:20301570 ; PMID:22161967 ; PMID:26048034

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649932G>A , CM000681.2:g.12649932G>A	GRCh38
NC_000019.9:g.12760746G>A , CM000681.1:g.12760746G>A	GRCh37
NC_000019.8:g.12621746G>A	NCBI36
NG_008318.1:g.21846C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2248C>T MANE Select	ENSP00000395473.2:p.Arg750Trp
ENST00000221363.8:c.2245C>T	ENSP00000221363.4:p.Arg749Trp
ENST00000456935.6:c.2248C>T	ENSP00000395473.2:p.Arg750Trp
ENST00000466794.5:n.2838C>T
NM_000528.3:c.2248C>T	NP_000519.2:p.Arg750Trp
NM_001173498.1:c.2245C>T	NP_001166969.1:p.Arg749Trp
XM_005259913.1:c.2251C>T	XP_005259970.1:p.Arg751Trp
XM_011528017.1:c.1147C>T	XP_011526319.1:p.Arg383Trp
XM_005259913.2:c.2251C>T	XP_005259970.1:p.Arg751Trp
XM_024451518.1:c.1147C>T	XP_024307286.1:p.Arg383Trp
NM_000528.4:c.2248C>T MANE Select	NP_000519.2:p.Arg750Trp
NM_001173498.2:c.2245C>T	NP_001166969.1:p.Arg749Trp