Canonical Allele Identifier: CA9226239

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12652192C>T , CM000681.2:g.12652192C>T	GRCh38
NC_000019.9:g.12763006C>T , CM000681.1:g.12763006C>T	GRCh37
NC_000019.8:g.12624006C>T	NCBI36
NG_008318.1:g.19586G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000528.4:c.2007G>A MANE Select	NP_000519.2:p.Pro669=
ENST00000456935.7:c.2007G>A MANE Select	ENSP00000395473.2:p.Pro669=
NM_000528.3:c.2007G>A	NP_000519.2:p.Pro669=
NM_001173498.1:c.2004G>A	NP_001166969.1:p.Pro668=
NM_001173498.2:c.2004G>A	NP_001166969.1:p.Pro668=
ENST00000221363.8:c.2004G>A	ENSP00000221363.4:p.Pro668=
ENST00000456935.6:c.2007G>A	ENSP00000395473.2:p.Pro669=
ENST00000466794.5:n.2597G>A
ENST00000596591.1:c.340G>A
XM_005259913.1:c.2010G>A	XP_005259970.1:p.Pro670=
XM_005259913.2:c.2010G>A	XP_005259970.1:p.Pro670=
XM_011528017.1:c.906G>A	XP_011526319.1:p.Pro302=
XM_024451518.1:c.906G>A	XP_024307286.1:p.Pro302=