Canonical Allele Identifier: CA305469722

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12655881T>A , CM000681.2:g.12655881T>A	GRCh38
NC_000019.9:g.12766695T>A , CM000681.1:g.12766695T>A	GRCh37
NC_000019.8:g.12627695T>A	NCBI36
NG_008318.1:g.15897A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000528.4:c.1645-2A>T MANE Select	NP_000519.2:n.1645-2A>T
ENST00000456935.7:c.1645-2A>T MANE Select	ENSP00000395473.2:n.1645-2A>T
NM_000528.3:c.1645-2A>T	NP_000519.2:n.1645-2A>T
NM_001173498.1:c.1642-2A>T	NP_001166969.1:n.1642-2A>T
NM_001173498.2:c.1642-2A>T	NP_001166969.1:n.1642-2A>T
ENST00000221363.8:c.1642-2A>T	ENSP00000221363.4:n.1642-2A>T
ENST00000433513.5:n.251-2A>T
ENST00000456935.6:c.1645-2A>T	ENSP00000395473.2:n.1645-2A>T
ENST00000466794.5:n.2233A>T
ENST00000593686.1:c.255-19A>T
ENST00000595880.5:n.242-2A>T
ENST00000596591.1:c.9-2A>T
XM_005259913.1:c.1648-2A>T	XP_005259970.1:n.1648-2A>T
XM_005259913.2:c.1648-2A>T	XP_005259970.1:n.1648-2A>T
XM_011528017.1:c.544-2A>T	XP_011526319.1:n.544-2A>T
XM_024451518.1:c.544-2A>T	XP_024307286.1:n.544-2A>T