Canonical Allele Identifier: CA505771081

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12769107G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658293G>A , CM000681.2:g.12658293G>A	GRCh38
NC_000019.9:g.12769107G>A , CM000681.1:g.12769107G>A	GRCh37
NC_000019.8:g.12630107G>A	NCBI36
NG_008318.1:g.13485C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.1161C>T MANE Select	ENSP00000395473.2:p.Phe387=
ENST00000221363.8:c.1158C>T	ENSP00000221363.4:p.Phe386=
ENST00000456935.6:c.1161C>T	ENSP00000395473.2:p.Phe387=
ENST00000465830.1:n.325C>T
ENST00000466794.5:n.1060C>T
ENST00000495617.1:n.280+438C>T
NM_000528.3:c.1161C>T	NP_000519.2:p.Phe387=
NM_001173498.1:c.1158C>T	NP_001166969.1:p.Phe386=
XM_005259913.1:c.1164C>T	XP_005259970.1:p.Phe388=
XM_011528017.1:c.60C>T	XP_011526319.1:p.Phe20=
XM_005259913.2:c.1164C>T	XP_005259970.1:p.Phe388=
XM_024451518.1:c.60C>T	XP_024307286.1:p.Phe20=
NM_000528.4:c.1161C>T MANE Select	NP_000519.2:p.Phe387=
NM_001173498.2:c.1158C>T	NP_001166969.1:p.Phe386=