Canonical Allele Identifier: CA9226650
Gene: MAN2B1 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.12661351G>T
GRCh37 chr19:g.12772165G>T
Revel Score:
ENST00000456935 (MANE Select) 0.436
ENST00000536796 0.436
ENST00000221363 0.436
gnomAD v2:
19:12772165 G / T
gnomAD v3:
19:12661351 G / T
gnomAD v4:
chr19-12661351-G-T
Joint Max Group AF 0.01142059 (AFR)
Genomes Max Group AF 0.01110711 (AFR)
Exomes Max Group AF 0.0112166 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12661351G>T , CM000681.2:g.12661351G>T GRCh38
NC_000019.9:g.12772165G>T , CM000681.1:g.12772165G>T GRCh37
NC_000019.8:g.12633165G>T NCBI36
NG_008318.1:g.10427C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.935C>A MANE Select ENSP00000395473.2:p.Thr312Asn
ENST00000221363.8:c.935C>A ENSP00000221363.4:p.Thr312Asn
ENST00000456935.6:c.935C>A ENSP00000395473.2:p.Thr312Asn
ENST00000462144.1:n.128C>A
ENST00000466794.5:n.917C>A
NM_000528.3:c.935C>A NP_000519.2:p.Thr312Asn
NM_001173498.1:c.935C>A NP_001166969.1:p.Thr312Asn
XM_005259913.1:c.935C>A XP_005259970.1:p.Thr312Asn
XM_011528017.1:c.-84C>A XP_011526319.1:n.-84C>A
XM_005259913.2:c.935C>A XP_005259970.1:p.Thr312Asn
XM_024451518.1:c.-84C>A XP_024307286.1:n.-84C>A
NM_000528.4:c.935C>A MANE Select NP_000519.2:p.Thr312Asn
NM_001173498.2:c.935C>A NP_001166969.1:p.Thr312Asn
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