Canonical Allele Identifier: CA404238153

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12758385G>T (hg19) ; chr19:g.12647571G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647571G>T , CM000681.2:g.12647571G>T	GRCh38
NC_000019.9:g.12758385G>T , CM000681.1:g.12758385G>T	GRCh37
NC_000019.8:g.12619385G>T	NCBI36
NG_008318.1:g.24207C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2692C>A MANE Select	ENSP00000395473.2:p.Pro898Thr
ENST00000221363.8:c.2689C>A	ENSP00000221363.4:p.Pro897Thr
ENST00000456935.6:c.2692C>A	ENSP00000395473.2:p.Pro898Thr
ENST00000466794.5:n.3282C>A
ENST00000469423.1:n.14C>A
ENST00000493218.5:n.103C>A
ENST00000597692.1:c.251C>A
NM_000528.3:c.2692C>A	NP_000519.2:p.Pro898Thr
NM_001173498.1:c.2689C>A	NP_001166969.1:p.Pro897Thr
XM_005259913.1:c.2695C>A	XP_005259970.1:p.Pro899Thr
XM_011528017.1:c.1591C>A	XP_011526319.1:p.Pro531Thr
XM_005259913.2:c.2695C>A	XP_005259970.1:p.Pro899Thr
XM_024451518.1:c.1591C>A	XP_024307286.1:p.Pro531Thr
NM_000528.4:c.2692C>A MANE Select	NP_000519.2:p.Pro898Thr
NM_001173498.2:c.2689C>A	NP_001166969.1:p.Pro897Thr