Canonical Allele Identifier: CA404244753

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12655729T>A , CM000681.2:g.12655729T>A	GRCh38
NC_000019.9:g.12766543T>A , CM000681.1:g.12766543T>A	GRCh37
NC_000019.8:g.12627543T>A	NCBI36
NG_008318.1:g.16049A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000528.4:c.1795A>T MANE Select	NP_000519.2:p.Arg599Ter
ENST00000456935.7:c.1795A>T MANE Select	ENSP00000395473.2:p.Arg599Ter
NM_000528.3:c.1795A>T	NP_000519.2:p.Arg599Ter
NM_001173498.1:c.1792A>T	NP_001166969.1:p.Arg598Ter
NM_001173498.2:c.1792A>T	NP_001166969.1:p.Arg598Ter
ENST00000221363.8:c.1792A>T	ENSP00000221363.4:p.Arg598Ter
ENST00000433513.5:n.401A>T
ENST00000456935.6:c.1795A>T	ENSP00000395473.2:p.Arg599Ter
ENST00000466794.5:n.2385A>T
ENST00000593686.1:c.388A>T
ENST00000595880.5:n.392A>T
ENST00000596591.1:c.159A>T
XM_005259913.1:c.1798A>T	XP_005259970.1:p.Arg600Ter
XM_005259913.2:c.1798A>T	XP_005259970.1:p.Arg600Ter
XM_011528017.1:c.694A>T	XP_011526319.1:p.Arg232Ter
XM_024451518.1:c.694A>T	XP_024307286.1:p.Arg232Ter