Canonical Allele Identifier: CA404237991

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12758345T>A (hg19) ; chr19:g.12647531T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647531T>A , CM000681.2:g.12647531T>A	GRCh38
NC_000019.9:g.12758345T>A , CM000681.1:g.12758345T>A	GRCh37
NC_000019.8:g.12619345T>A	NCBI36
NG_008318.1:g.24247A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2732A>T MANE Select	ENSP00000395473.2:p.Glu911Val
ENST00000221363.8:c.2729A>T	ENSP00000221363.4:p.Glu910Val
ENST00000456935.6:c.2732A>T	ENSP00000395473.2:p.Glu911Val
ENST00000466794.5:n.3322A>T
ENST00000469423.1:n.54A>T
ENST00000493218.5:n.143A>T
ENST00000597692.1:c.291A>T
NM_000528.3:c.2732A>T	NP_000519.2:p.Glu911Val
NM_001173498.1:c.2729A>T	NP_001166969.1:p.Glu910Val
XM_005259913.1:c.2735A>T	XP_005259970.1:p.Glu912Val
XM_011528017.1:c.1631A>T	XP_011526319.1:p.Glu544Val
XM_005259913.2:c.2735A>T	XP_005259970.1:p.Glu912Val
XM_024451518.1:c.1631A>T	XP_024307286.1:p.Glu544Val
NM_000528.4:c.2732A>T MANE Select	NP_000519.2:p.Glu911Val
NM_001173498.2:c.2729A>T	NP_001166969.1:p.Glu910Val