Canonical Allele Identifier: CA9226475

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657467C>T , CM000681.2:g.12657467C>T	GRCh38
NC_000019.9:g.12768281C>T , CM000681.1:g.12768281C>T	GRCh37
NC_000019.8:g.12629281C>T	NCBI36
NG_008318.1:g.14311G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000528.4:c.1398G>A MANE Select	NP_000519.2:p.Ala466=
ENST00000456935.7:c.1398G>A MANE Select	ENSP00000395473.2:p.Ala466=
NM_000528.3:c.1398G>A	NP_000519.2:p.Ala466=
NM_001173498.1:c.1395G>A	NP_001166969.1:p.Ala465=
NM_001173498.2:c.1395G>A	NP_001166969.1:p.Ala465=
ENST00000221363.8:c.1395G>A	ENSP00000221363.4:p.Ala465=
ENST00000456935.6:c.1398G>A	ENSP00000395473.2:p.Ala466=
ENST00000465830.1:n.562G>A
ENST00000466794.5:n.1297G>A
ENST00000495617.1:n.574G>A
ENST00000593686.1:c.8G>A
XM_005259913.1:c.1401G>A	XP_005259970.1:p.Ala467=
XM_005259913.2:c.1401G>A	XP_005259970.1:p.Ala467=
XM_011528017.1:c.297G>A	XP_011526319.1:p.Ala99=
XM_024451518.1:c.297G>A	XP_024307286.1:p.Ala99=