Canonical Allele Identifier: CA505624210

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12646692G>C , CM000681.2:g.12646692G>C	GRCh38
NC_000019.9:g.12757506G>C , CM000681.1:g.12757506G>C	GRCh37
NC_000019.8:g.12618506G>C	NCBI36
NG_008318.1:g.25086C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000528.4:c.2964C>G MANE Select	NP_000519.2:p.Ala988=
ENST00000456935.7:c.2964C>G MANE Select	ENSP00000395473.2:p.Ala988=
NM_000528.3:c.2964C>G	NP_000519.2:p.Ala988=
NM_001173498.1:c.2961C>G	NP_001166969.1:p.Ala987=
NM_001173498.2:c.2961C>G	NP_001166969.1:p.Ala987=
ENST00000221363.8:c.2961C>G	ENSP00000221363.4:p.Ala987=
ENST00000456935.6:c.2964C>G	ENSP00000395473.2:p.Ala988=
ENST00000466794.5:n.3554C>G
ENST00000469423.1:n.393C>G
ENST00000480851.5:n.144C>G
ENST00000493218.5:n.375C>G
ENST00000597692.1:c.523C>G
XM_005259913.1:c.2967C>G	XP_005259970.1:p.Ala989=
XM_005259913.2:c.2967C>G	XP_005259970.1:p.Ala989=
XM_011528017.1:c.1863C>G	XP_011526319.1:p.Ala621=
XM_024451518.1:c.1863C>G	XP_024307286.1:p.Ala621=