Canonical Allele Identifier: CA404248299

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12769132G>T (hg19) ; chr19:g.12658318G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658318G>T , CM000681.2:g.12658318G>T	GRCh38
NC_000019.9:g.12769132G>T , CM000681.1:g.12769132G>T	GRCh37
NC_000019.8:g.12630132G>T	NCBI36
NG_008318.1:g.13460C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1136C>A MANE Select	ENSP00000395473.2:p.Pro379His
ENST00000221363.8:c.1133C>A	ENSP00000221363.4:p.Pro378His
ENST00000456935.6:c.1136C>A	ENSP00000395473.2:p.Pro379His
ENST00000465830.1:n.300C>A
ENST00000466794.5:n.1035C>A
ENST00000495617.1:n.280+413C>A
NM_000528.3:c.1136C>A	NP_000519.2:p.Pro379His
NM_001173498.1:c.1133C>A	NP_001166969.1:p.Pro378His
XM_005259913.1:c.1139C>A	XP_005259970.1:p.Pro380His
XM_011528017.1:c.35C>A	XP_011526319.1:p.Pro12His
XM_005259913.2:c.1139C>A	XP_005259970.1:p.Pro380His
XM_024451518.1:c.35C>A	XP_024307286.1:p.Pro12His
NM_000528.4:c.1136C>A MANE Select	NP_000519.2:p.Pro379His
NM_001173498.2:c.1133C>A	NP_001166969.1:p.Pro378His