Canonical Allele Identifier: CA9226655
Gene: MAN2B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 757381
ClinVar RCV Id: RCV000934997
dbSNP Id: rs759023914

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12661359G>A , CM000681.2:g.12661359G>A GRCh38
NC_000019.9:g.12772173G>A , CM000681.1:g.12772173G>A GRCh37
NC_000019.8:g.12633173G>A NCBI36
NG_008318.1:g.10419C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000456935.7:c.927C>T MANE Select ENSP00000395473.2:p.Thr309=
ENST00000221363.8:c.927C>T ENSP00000221363.4:p.Thr309=
ENST00000456935.6:c.927C>T ENSP00000395473.2:p.Thr309=
ENST00000462144.1:n.120C>T
ENST00000466794.5:n.909C>T
NM_000528.3:c.927C>T NP_000519.2:p.Thr309=
NM_001173498.1:c.927C>T NP_001166969.1:p.Thr309=
XM_005259913.1:c.927C>T XP_005259970.1:p.Thr309=
XM_011528017.1:c.-92C>T XP_011526319.1:n.-92C>T
XM_005259913.2:c.927C>T XP_005259970.1:p.Thr309=
XM_024451518.1:c.-92C>T XP_024307286.1:n.-92C>T
NM_000528.4:c.927C>T MANE Select NP_000519.2:p.Thr309=
NM_001173498.2:c.927C>T NP_001166969.1:p.Thr309=