Canonical Allele Identifier: CA9226147

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1135094
• ClinVar RCV Id: RCV001470272
• dbSNP Id: rs781197939
• ExAC: 19:12760741 C / T
• gnomAD v2: 19-12760741-C-T
• gnomAD v4: 19-12649927-C-T
• MyVariant Identifiers: chr19:g.12760741C>T (hg19) ; chr19:g.12649927C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649927C>T , CM000681.2:g.12649927C>T	GRCh38
NC_000019.9:g.12760741C>T , CM000681.1:g.12760741C>T	GRCh37
NC_000019.8:g.12621741C>T	NCBI36
NG_008318.1:g.21851G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2253G>A MANE Select	ENSP00000395473.2:p.Glu751=
ENST00000221363.8:c.2250G>A	ENSP00000221363.4:p.Glu750=
ENST00000456935.6:c.2253G>A	ENSP00000395473.2:p.Glu751=
ENST00000466794.5:n.2843G>A
NM_000528.3:c.2253G>A	NP_000519.2:p.Glu751=
NM_001173498.1:c.2250G>A	NP_001166969.1:p.Glu750=
XM_005259913.1:c.2256G>A	XP_005259970.1:p.Glu752=
XM_011528017.1:c.1152G>A	XP_011526319.1:p.Glu384=
XM_005259913.2:c.2256G>A	XP_005259970.1:p.Glu752=
XM_024451518.1:c.1152G>A	XP_024307286.1:p.Glu384=
NM_000528.4:c.2253G>A MANE Select	NP_000519.2:p.Glu751=
NM_001173498.2:c.2250G>A	NP_001166969.1:p.Glu750=