Canonical Allele Identifier: CA350992

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663438G>A , CM000681.2:g.12663438G>A	GRCh38
NC_000019.9:g.12774252G>A , CM000681.1:g.12774252G>A	GRCh37
NC_000019.8:g.12635252G>A	NCBI36
NG_008318.1:g.8340C>T
NG_015814.1:g.1635G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000528.4:c.788C>T MANE Select	NP_000519.2:p.Pro263Leu
ENST00000456935.7:c.788C>T MANE Select	ENSP00000395473.2:p.Pro263Leu
NM_000528.3:c.788C>T	NP_000519.2:p.Pro263Leu
NM_001173498.1:c.788C>T	NP_001166969.1:p.Pro263Leu
NM_001173498.2:c.788C>T	NP_001166969.1:p.Pro263Leu
ENST00000221363.8:c.788C>T	ENSP00000221363.4:p.Pro263Leu
ENST00000456935.6:c.788C>T	ENSP00000395473.2:p.Pro263Leu
ENST00000466794.5:n.770C>T
ENST00000486847.2:c.491C>T	ENSP00000470174.1:p.Pro164Leu
XM_005259913.1:c.788C>T	XP_005259970.1:p.Pro263Leu
XM_005259913.2:c.788C>T	XP_005259970.1:p.Pro263Leu
XM_024451518.1:c.-231C>T	XP_024307286.1:n.-231C>T