Canonical Allele Identifier: CA404243285
Gene: MAN2B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12650148C>A , CM000681.2:g.12650148C>A GRCh38
NC_000019.9:g.12760962C>A , CM000681.1:g.12760962C>A GRCh37
NC_000019.8:g.12621962C>A NCBI36
NG_008318.1:g.21630G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.2121G>T MANE Select ENSP00000395473.2:p.Gln707His
ENST00000221363.8:c.2118G>T ENSP00000221363.4:p.Gln706His
ENST00000456935.6:c.2121G>T ENSP00000395473.2:p.Gln707His
ENST00000466794.5:n.2711G>T
NM_000528.3:c.2121G>T NP_000519.2:p.Gln707His
NM_001173498.1:c.2118G>T NP_001166969.1:p.Gln706His
XM_005259913.1:c.2124G>T XP_005259970.1:p.Gln708His
XM_011528017.1:c.1020G>T XP_011526319.1:p.Gln340His
XM_005259913.2:c.2124G>T XP_005259970.1:p.Gln708His
XM_024451518.1:c.1020G>T XP_024307286.1:p.Gln340His
NM_000528.4:c.2121G>T MANE Select NP_000519.2:p.Gln707His
NM_001173498.2:c.2118G>T NP_001166969.1:p.Gln706His