Canonical Allele Identifier: CA505770633
Gene: MAN2B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1539307
ClinVar RCV Id: RCV002176863
dbSNP Id: rs2145220436
MyVariant Identifiers: chr19:g.12758120G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12647306G>A , CM000681.2:g.12647306G>A GRCh38
NC_000019.9:g.12758120G>A , CM000681.1:g.12758120G>A GRCh37
NC_000019.8:g.12619120G>A NCBI36
NG_008318.1:g.24472C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.2850C>T MANE Select ENSP00000395473.2:p.Arg950=
ENST00000221363.8:c.2847C>T ENSP00000221363.4:p.Arg949=
ENST00000456935.6:c.2850C>T ENSP00000395473.2:p.Arg950=
ENST00000466794.5:n.3440C>T
ENST00000469423.1:n.279C>T
ENST00000493218.5:n.261C>T
ENST00000597692.1:c.409C>T
NM_000528.3:c.2850C>T NP_000519.2:p.Arg950=
NM_001173498.1:c.2847C>T NP_001166969.1:p.Arg949=
XM_005259913.1:c.2853C>T XP_005259970.1:p.Arg951=
XM_011528017.1:c.1749C>T XP_011526319.1:p.Arg583=
XM_005259913.2:c.2853C>T XP_005259970.1:p.Arg951=
XM_024451518.1:c.1749C>T XP_024307286.1:p.Arg583=
NM_000528.4:c.2850C>T MANE Select NP_000519.2:p.Arg950=
NM_001173498.2:c.2847C>T NP_001166969.1:p.Arg949=