Canonical Allele Identifier: CA9226728

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663722C>T , CM000681.2:g.12663722C>T	GRCh38
NC_000019.9:g.12774536C>T , CM000681.1:g.12774536C>T	GRCh37
NC_000019.8:g.12635536C>T	NCBI36
NG_008318.1:g.8056G>A
NG_015814.1:g.1919C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000528.4:c.744G>A MANE Select	NP_000519.2:p.Pro248=
ENST00000456935.7:c.744G>A MANE Select	ENSP00000395473.2:p.Pro248=
NM_000528.3:c.744G>A	NP_000519.2:p.Pro248=
NM_001173498.1:c.744G>A	NP_001166969.1:p.Pro248=
NM_001173498.2:c.744G>A	NP_001166969.1:p.Pro248=
ENST00000221363.8:c.744G>A	ENSP00000221363.4:p.Pro248=
ENST00000456935.6:c.744G>A	ENSP00000395473.2:p.Pro248=
ENST00000466794.5:n.726G>A
ENST00000486847.2:c.447G>A	ENSP00000470174.1:p.Pro149=
XM_005259913.1:c.744G>A	XP_005259970.1:p.Pro248=
XM_005259913.2:c.744G>A	XP_005259970.1:p.Pro248=
XM_024451518.1:c.-275G>A	XP_024307286.1:n.-275G>A