Canonical Allele Identifier: CA404257325

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665496G>A , CM000681.2:g.12665496G>A	GRCh38
NC_000019.9:g.12776310G>A , CM000681.1:g.12776310G>A	GRCh37
NC_000019.8:g.12637310G>A	NCBI36
NG_008318.1:g.6282C>T
NG_015814.1:g.3693G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000528.4:c.292C>T MANE Select	NP_000519.2:p.Gln98Ter
ENST00000456935.7:c.292C>T MANE Select	ENSP00000395473.2:p.Gln98Ter
NM_000528.3:c.292C>T	NP_000519.2:p.Gln98Ter
NM_001173498.1:c.292C>T	NP_001166969.1:p.Gln98Ter
NM_001173498.2:c.292C>T	NP_001166969.1:p.Gln98Ter
ENST00000221363.8:c.292C>T	ENSP00000221363.4:p.Gln98Ter
ENST00000456935.6:c.292C>T	ENSP00000395473.2:p.Gln98Ter
ENST00000466794.5:n.274C>T
ENST00000486847.2:c.189C>T	ENSP00000470174.1:p.Cys63=
ENST00000596512.5:n.230C>T
ENST00000597961.1:c.283C>T	ENSP00000472710.1:p.Gln95Ter
ENST00000598876.1:c.319C>T	ENSP00000470533.1:p.Gln107Ter
ENST00000600281.1:n.333C>T
XM_005259913.1:c.292C>T	XP_005259970.1:p.Gln98Ter
XM_005259913.2:c.292C>T	XP_005259970.1:p.Gln98Ter
XM_024451518.1:c.-727C>T	XP_024307286.1:n.-727C>T