Canonical Allele Identifier: CA404245020

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12766663C>T (hg19) ; chr19:g.12655849C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12655849C>T , CM000681.2:g.12655849C>T	GRCh38
NC_000019.9:g.12766663C>T , CM000681.1:g.12766663C>T	GRCh37
NC_000019.8:g.12627663C>T	NCBI36
NG_008318.1:g.15929G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1675G>A MANE Select	ENSP00000395473.2:p.Ala559Thr
ENST00000221363.8:c.1672G>A	ENSP00000221363.4:p.Ala558Thr
ENST00000433513.5:n.281G>A
ENST00000456935.6:c.1675G>A	ENSP00000395473.2:p.Ala559Thr
ENST00000466794.5:n.2265G>A
ENST00000593686.1:c.268G>A
ENST00000595880.5:n.272G>A
ENST00000596591.1:c.39G>A
NM_000528.3:c.1675G>A	NP_000519.2:p.Ala559Thr
NM_001173498.1:c.1672G>A	NP_001166969.1:p.Ala558Thr
XM_005259913.1:c.1678G>A	XP_005259970.1:p.Ala560Thr
XM_011528017.1:c.574G>A	XP_011526319.1:p.Ala192Thr
XM_005259913.2:c.1678G>A	XP_005259970.1:p.Ala560Thr
XM_024451518.1:c.574G>A	XP_024307286.1:p.Ala192Thr
NM_000528.4:c.1675G>A MANE Select	NP_000519.2:p.Ala559Thr
NM_001173498.2:c.1672G>A	NP_001166969.1:p.Ala558Thr