Canonical Allele Identifier: CA404247580

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658132G>A , CM000681.2:g.12658132G>A	GRCh38
NC_000019.9:g.12768946G>A , CM000681.1:g.12768946G>A	GRCh37
NC_000019.8:g.12629946G>A	NCBI36
NG_008318.1:g.13646C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000528.4:c.1240C>T MANE Select	NP_000519.2:p.Gln414Ter
ENST00000456935.7:c.1240C>T MANE Select	ENSP00000395473.2:p.Gln414Ter
NM_000528.3:c.1240C>T	NP_000519.2:p.Gln414Ter
NM_001173498.1:c.1237C>T	NP_001166969.1:p.Gln413Ter
NM_001173498.2:c.1237C>T	NP_001166969.1:p.Gln413Ter
ENST00000221363.8:c.1237C>T	ENSP00000221363.4:p.Gln413Ter
ENST00000456935.6:c.1240C>T	ENSP00000395473.2:p.Gln414Ter
ENST00000465830.1:n.404C>T
ENST00000466794.5:n.1139C>T
ENST00000495617.1:n.281-372C>T
XM_005259913.1:c.1243C>T	XP_005259970.1:p.Gln415Ter
XM_005259913.2:c.1243C>T	XP_005259970.1:p.Gln415Ter
XM_011528017.1:c.139C>T	XP_011526319.1:p.Gln47Ter
XM_024451518.1:c.139C>T	XP_024307286.1:p.Gln47Ter