Canonical Allele Identifier: CA404244863

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1444890
• ClinVar RCV Id: RCV001982639
• dbSNP Id: rs2145250381
• MyVariant Identifiers: chr19:g.12766597C>T (hg19) ; chr19:g.12655783C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12655783C>T , CM000681.2:g.12655783C>T	GRCh38
NC_000019.9:g.12766597C>T , CM000681.1:g.12766597C>T	GRCh37
NC_000019.8:g.12627597C>T	NCBI36
NG_008318.1:g.15995G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1741G>A MANE Select	ENSP00000395473.2:p.Ala581Thr
ENST00000221363.8:c.1738G>A	ENSP00000221363.4:p.Ala580Thr
ENST00000433513.5:n.347G>A
ENST00000456935.6:c.1741G>A	ENSP00000395473.2:p.Ala581Thr
ENST00000466794.5:n.2331G>A
ENST00000593686.1:c.334G>A
ENST00000595880.5:n.338G>A
ENST00000596591.1:c.105G>A
NM_000528.3:c.1741G>A	NP_000519.2:p.Ala581Thr
NM_001173498.1:c.1738G>A	NP_001166969.1:p.Ala580Thr
XM_005259913.1:c.1744G>A	XP_005259970.1:p.Ala582Thr
XM_011528017.1:c.640G>A	XP_011526319.1:p.Ala214Thr
XM_005259913.2:c.1744G>A	XP_005259970.1:p.Ala582Thr
XM_024451518.1:c.640G>A	XP_024307286.1:p.Ala214Thr
NM_000528.4:c.1741G>A MANE Select	NP_000519.2:p.Ala581Thr
NM_001173498.2:c.1738G>A	NP_001166969.1:p.Ala580Thr