Canonical Allele Identifier: CA404245863

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12656670A>T , CM000681.2:g.12656670A>T	GRCh38
NC_000019.9:g.12767484A>T , CM000681.1:g.12767484A>T	GRCh37
NC_000019.8:g.12628484A>T	NCBI36
NG_008318.1:g.15108T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000528.4:c.1545T>A MANE Select	NP_000519.2:p.Tyr515Ter
ENST00000456935.7:c.1545T>A MANE Select	ENSP00000395473.2:p.Tyr515Ter
NM_000528.3:c.1545T>A	NP_000519.2:p.Tyr515Ter
NM_001173498.1:c.1542T>A	NP_001166969.1:p.Tyr514Ter
NM_001173498.2:c.1542T>A	NP_001166969.1:p.Tyr514Ter
ENST00000221363.8:c.1542T>A	ENSP00000221363.4:p.Tyr514Ter
ENST00000433513.5:n.151T>A
ENST00000456935.6:c.1545T>A	ENSP00000395473.2:p.Tyr515Ter
ENST00000466794.5:n.1444T>A
ENST00000495617.1:n.721T>A
ENST00000593686.1:c.155T>A
ENST00000595880.5:n.142T>A
XM_005259913.1:c.1548T>A	XP_005259970.1:p.Tyr516Ter
XM_005259913.2:c.1548T>A	XP_005259970.1:p.Tyr516Ter
XM_011528017.1:c.444T>A	XP_011526319.1:p.Tyr148Ter
XM_024451518.1:c.444T>A	XP_024307286.1:p.Tyr148Ter