Canonical Allele Identifier: CA9225850

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12646690T>C , CM000681.2:g.12646690T>C	GRCh38
NC_000019.9:g.12757504T>C , CM000681.1:g.12757504T>C	GRCh37
NC_000019.8:g.12618504T>C	NCBI36
NG_008318.1:g.25088A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000528.4:c.2966A>G MANE Select	NP_000519.2:p.Asn989Ser
ENST00000456935.7:c.2966A>G MANE Select	ENSP00000395473.2:p.Asn989Ser
NM_000528.3:c.2966A>G	NP_000519.2:p.Asn989Ser
NM_001173498.1:c.2963A>G	NP_001166969.1:p.Asn988Ser
NM_001173498.2:c.2963A>G	NP_001166969.1:p.Asn988Ser
ENST00000221363.8:c.2963A>G	ENSP00000221363.4:p.Asn988Ser
ENST00000456935.6:c.2966A>G	ENSP00000395473.2:p.Asn989Ser
ENST00000466794.5:n.3556A>G
ENST00000469423.1:n.395A>G
ENST00000480851.5:n.146A>G
ENST00000493218.5:n.377A>G
ENST00000597692.1:c.525A>G
XM_005259913.1:c.2969A>G	XP_005259970.1:p.Asn990Ser
XM_005259913.2:c.2969A>G	XP_005259970.1:p.Asn990Ser
XM_011528017.1:c.1865A>G	XP_011526319.1:p.Asn622Ser
XM_024451518.1:c.1865A>G	XP_024307286.1:p.Asn622Ser