Canonical Allele Identifier: CA505624185

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12646650G>T , CM000681.2:g.12646650G>T	GRCh38
NC_000019.9:g.12757464G>T , CM000681.1:g.12757464G>T	GRCh37
NC_000019.8:g.12618464G>T	NCBI36
NG_008318.1:g.25128C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000528.4:c.3006C>A MANE Select	NP_000519.2:p.Ala1002=
ENST00000456935.7:c.3006C>A MANE Select	ENSP00000395473.2:p.Ala1002=
NM_000528.3:c.3006C>A	NP_000519.2:p.Ala1002=
NM_001173498.1:c.3003C>A	NP_001166969.1:p.Ala1001=
NM_001173498.2:c.3003C>A	NP_001166969.1:p.Ala1001=
ENST00000221363.8:c.3003C>A	ENSP00000221363.4:p.Ala1001=
ENST00000456935.6:c.3006C>A	ENSP00000395473.2:p.Ala1002=
ENST00000466794.5:n.3596C>A
ENST00000469423.1:n.435C>A
ENST00000480851.5:n.186C>A
ENST00000493218.5:n.417C>A
ENST00000597692.1:c.565C>A
XM_005259913.1:c.3009C>A	XP_005259970.1:p.Ala1003=
XM_005259913.2:c.3009C>A	XP_005259970.1:p.Ala1003=
XM_011528017.1:c.1905C>A	XP_011526319.1:p.Ala635=
XM_024451518.1:c.1905C>A	XP_024307286.1:p.Ala635=