Canonical Allele Identifier: CA2576634873

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649321G>T , CM000681.2:g.12649321G>T	GRCh38
NC_000019.9:g.12760135G>T , CM000681.1:g.12760135G>T	GRCh37
NC_000019.8:g.12621135G>T	NCBI36
NG_008318.1:g.22457C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2355+20C>A MANE Select	ENSP00000395473.2:n.2355+20C>A
ENST00000221363.8:c.2352+20C>A	ENSP00000221363.4:n.2352+20C>A
ENST00000456935.6:c.2355+20C>A	ENSP00000395473.2:n.2355+20C>A
ENST00000466794.5:n.2945+20C>A
NM_000528.3:c.2355+20C>A	NP_000519.2:n.2355+20C>A
NM_001173498.1:c.2352+20C>A	NP_001166969.1:n.2352+20C>A
XM_005259913.1:c.2358+20C>A	XP_005259970.1:n.2358+20C>A
XM_011528017.1:c.1254+20C>A	XP_011526319.1:n.1254+20C>A
XM_005259913.2:c.2358+20C>A	XP_005259970.1:n.2358+20C>A
XM_024451518.1:c.1254+20C>A	XP_024307286.1:n.1254+20C>A
NM_000528.4:c.2355+20C>A MANE Select	NP_000519.2:n.2355+20C>A
NM_001173498.2:c.2352+20C>A	NP_001166969.1:n.2352+20C>A