Canonical Allele Identifier: CA9226680

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 764675
• ClinVar RCV Id: RCV000943033
• dbSNP Id: rs749372996
• ExAC: 19:12774134 G / A
• gnomAD v2: 19-12774134-G-A
• gnomAD v3: 19-12663320-G-A
• gnomAD v4: 19-12663320-G-A
• MyVariant Identifiers: chr19:g.12774134G>A (hg19) ; chr19:g.12663320G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663320G>A , CM000681.2:g.12663320G>A	GRCh38
NC_000019.9:g.12774134G>A , CM000681.1:g.12774134G>A	GRCh37
NC_000019.8:g.12635134G>A	NCBI36
NG_008318.1:g.8458C>T
NG_015814.1:g.1517G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.906C>T MANE Select	ENSP00000395473.2:p.Ala302=
ENST00000221363.8:c.906C>T	ENSP00000221363.4:p.Ala302=
ENST00000456935.6:c.906C>T	ENSP00000395473.2:p.Ala302=
ENST00000462144.1:n.99C>T
ENST00000466794.5:n.888C>T
NM_000528.3:c.906C>T	NP_000519.2:p.Ala302=
NM_001173498.1:c.906C>T	NP_001166969.1:p.Ala302=
XM_005259913.1:c.906C>T	XP_005259970.1:p.Ala302=
XM_011528017.1:c.-113C>T	XP_011526319.1:n.-113C>T
XM_005259913.2:c.906C>T	XP_005259970.1:p.Ala302=
XM_024451518.1:c.-113C>T	XP_024307286.1:n.-113C>T
NM_000528.4:c.906C>T MANE Select	NP_000519.2:p.Ala302=
NM_001173498.2:c.906C>T	NP_001166969.1:p.Ala302=