Canonical Allele Identifier: CA339901
Gene: MAN2B1 HGNC NCBI
COSMIC:
COSM6420386 (not active)
MyVariant.info:
GRCh38 chr19:g.12649932G>A
GRCh37 chr19:g.12760746G>A
Revel Score:
ENST00000456935 (MANE Select) 0.740
ENST00000536796 0.740
ENST00000221363 0.740
gnomAD v2:
19:12760746 G / A
gnomAD v3:
19:12649932 G / A
gnomAD v4:
chr19-12649932-G-A
Joint Max Group AF 0.00016272 (NFE)
Genomes Max Group AF 0.00029964 (NFE)
Exomes Max Group AF 0.00014803 (NFE)
JSON-LD

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
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