Canonical Allele Identifier: CA404260255

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12666542C>T , CM000681.2:g.12666542C>T	GRCh38
NC_000019.9:g.12777356C>T , CM000681.1:g.12777356C>T	GRCh37
NC_000019.8:g.12638356C>T	NCBI36
NG_008318.1:g.5236G>A
NG_015814.1:g.4739C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000528.4:c.159+1G>A MANE Select	NP_000519.2:n.159+1G>A
ENST00000456935.7:c.159+1G>A MANE Select	ENSP00000395473.2:n.159+1G>A
NM_000528.3:c.159+1G>A	NP_000519.2:n.159+1G>A
NM_001173498.1:c.159+1G>A	NP_001166969.1:n.159+1G>A
NM_001173498.2:c.159+1G>A	NP_001166969.1:n.159+1G>A
ENST00000221363.8:c.159+1G>A	ENSP00000221363.4:n.159+1G>A
ENST00000456935.6:c.159+1G>A	ENSP00000395473.2:n.159+1G>A
ENST00000466794.5:n.141+1G>A
ENST00000486847.2:c.159+1G>A	ENSP00000470174.1:n.159+1G>A
ENST00000596512.5:n.200+1G>A
ENST00000597961.1:c.151-737G>A	ENSP00000472710.1:n.151-737G>A
ENST00000598876.1:c.159+1G>A	ENSP00000470533.1:n.159+1G>A
ENST00000600281.1:n.200+1G>A
XM_005259913.1:c.159+1G>A	XP_005259970.1:n.159+1G>A
XM_005259913.2:c.159+1G>A	XP_005259970.1:n.159+1G>A
XM_024451518.1:c.-860+1G>A	XP_024307286.1:n.-860+1G>A