Canonical Allele Identifier: CA404238008

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12758349G>T (hg19) ; chr19:g.12647535G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647535G>T , CM000681.2:g.12647535G>T	GRCh38
NC_000019.9:g.12758349G>T , CM000681.1:g.12758349G>T	GRCh37
NC_000019.8:g.12619349G>T	NCBI36
NG_008318.1:g.24243C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2728C>A MANE Select	ENSP00000395473.2:p.Pro910Thr
ENST00000221363.8:c.2725C>A	ENSP00000221363.4:p.Pro909Thr
ENST00000456935.6:c.2728C>A	ENSP00000395473.2:p.Pro910Thr
ENST00000466794.5:n.3318C>A
ENST00000469423.1:n.50C>A
ENST00000493218.5:n.139C>A
ENST00000597692.1:c.287C>A
NM_000528.3:c.2728C>A	NP_000519.2:p.Pro910Thr
NM_001173498.1:c.2725C>A	NP_001166969.1:p.Pro909Thr
XM_005259913.1:c.2731C>A	XP_005259970.1:p.Pro911Thr
XM_011528017.1:c.1627C>A	XP_011526319.1:p.Pro543Thr
XM_005259913.2:c.2731C>A	XP_005259970.1:p.Pro911Thr
XM_024451518.1:c.1627C>A	XP_024307286.1:p.Pro543Thr
NM_000528.4:c.2728C>A MANE Select	NP_000519.2:p.Pro910Thr
NM_001173498.2:c.2725C>A	NP_001166969.1:p.Pro909Thr