Canonical Allele Identifier: CA404246432

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12767842A>T (hg19) ; chr19:g.12657028A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657028A>T , CM000681.2:g.12657028A>T	GRCh38
NC_000019.9:g.12767842A>T , CM000681.1:g.12767842A>T	GRCh37
NC_000019.8:g.12628842A>T	NCBI36
NG_008318.1:g.14750T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1448T>A MANE Select	ENSP00000395473.2:p.Leu483His
ENST00000221363.8:c.1445T>A	ENSP00000221363.4:p.Leu482His
ENST00000433513.5:n.54T>A
ENST00000456935.6:c.1448T>A	ENSP00000395473.2:p.Leu483His
ENST00000466794.5:n.1347T>A
ENST00000495617.1:n.624T>A
ENST00000593686.1:c.58T>A
ENST00000595880.5:n.45T>A
NM_000528.3:c.1448T>A	NP_000519.2:p.Leu483His
NM_001173498.1:c.1445T>A	NP_001166969.1:p.Leu482His
XM_005259913.1:c.1451T>A	XP_005259970.1:p.Leu484His
XM_011528017.1:c.347T>A	XP_011526319.1:p.Leu116His
XM_005259913.2:c.1451T>A	XP_005259970.1:p.Leu484His
XM_024451518.1:c.347T>A	XP_024307286.1:p.Leu116His
NM_000528.4:c.1448T>A MANE Select	NP_000519.2:p.Leu483His
NM_001173498.2:c.1445T>A	NP_001166969.1:p.Leu482His