Canonical Allele Identifier: CA9226353

Gene: MAN2B1

Linked Data

• dbSNP Id: rs199588220
• ExAC: 19:12766662 G / T
• gnomAD v2: 19-12766662-G-T
• MyVariant Identifiers: chr19:g.12766662G>T (hg19) ; chr19:g.12655848G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12655848G>T , CM000681.2:g.12655848G>T	GRCh38
NC_000019.9:g.12766662G>T , CM000681.1:g.12766662G>T	GRCh37
NC_000019.8:g.12627662G>T	NCBI36
NG_008318.1:g.15930C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1676C>A MANE Select	ENSP00000395473.2:p.Ala559Glu
ENST00000221363.8:c.1673C>A	ENSP00000221363.4:p.Ala558Glu
ENST00000433513.5:n.282C>A
ENST00000456935.6:c.1676C>A	ENSP00000395473.2:p.Ala559Glu
ENST00000466794.5:n.2266C>A
ENST00000593686.1:c.269C>A
ENST00000595880.5:n.273C>A
ENST00000596591.1:c.40C>A
NM_000528.3:c.1676C>A	NP_000519.2:p.Ala559Glu
NM_001173498.1:c.1673C>A	NP_001166969.1:p.Ala558Glu
XM_005259913.1:c.1679C>A	XP_005259970.1:p.Ala560Glu
XM_011528017.1:c.575C>A	XP_011526319.1:p.Ala192Glu
XM_005259913.2:c.1679C>A	XP_005259970.1:p.Ala560Glu
XM_024451518.1:c.575C>A	XP_024307286.1:p.Ala192Glu
NM_000528.4:c.1676C>A MANE Select	NP_000519.2:p.Ala559Glu
NM_001173498.2:c.1673C>A	NP_001166969.1:p.Ala558Glu