Canonical Allele Identifier: CA9226324

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12655728C>A , CM000681.2:g.12655728C>A	GRCh38
NC_000019.9:g.12766542C>A , CM000681.1:g.12766542C>A	GRCh37
NC_000019.8:g.12627542C>A	NCBI36
NG_008318.1:g.16050G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000528.4:c.1796G>T MANE Select	NP_000519.2:p.Arg599Ile
ENST00000456935.7:c.1796G>T MANE Select	ENSP00000395473.2:p.Arg599Ile
NM_000528.3:c.1796G>T	NP_000519.2:p.Arg599Ile
NM_001173498.1:c.1793G>T	NP_001166969.1:p.Arg598Ile
NM_001173498.2:c.1793G>T	NP_001166969.1:p.Arg598Ile
ENST00000221363.8:c.1793G>T	ENSP00000221363.4:p.Arg598Ile
ENST00000433513.5:n.402G>T
ENST00000456935.6:c.1796G>T	ENSP00000395473.2:p.Arg599Ile
ENST00000466794.5:n.2386G>T
ENST00000593686.1:c.389G>T
ENST00000595880.5:n.393G>T
ENST00000596591.1:c.160G>T
XM_005259913.1:c.1799G>T	XP_005259970.1:p.Arg600Ile
XM_005259913.2:c.1799G>T	XP_005259970.1:p.Arg600Ile
XM_011528017.1:c.695G>T	XP_011526319.1:p.Arg232Ile
XM_024451518.1:c.695G>T	XP_024307286.1:p.Arg232Ile