Canonical Allele Identifier: CA505626139

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 2911311
• ClinVar RCV Id: RCV003601326
• gnomAD v4: 19-12664879-G-A
• MyVariant Identifiers: chr19:g.12775693G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12664879G>A , CM000681.2:g.12664879G>A	GRCh38
NC_000019.9:g.12775693G>A , CM000681.1:g.12775693G>A	GRCh37
NC_000019.8:g.12636693G>A	NCBI36
NG_008318.1:g.6899C>T
NG_015814.1:g.3076G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.543C>T MANE Select	ENSP00000395473.2:p.Asp181=
ENST00000221363.8:c.543C>T	ENSP00000221363.4:p.Asp181=
ENST00000456935.6:c.543C>T	ENSP00000395473.2:p.Asp181=
ENST00000466794.5:n.525C>T
ENST00000486847.2:c.333+473C>T	ENSP00000470174.1:n.333+473C>T
ENST00000596512.5:n.481C>T
ENST00000597961.1:c.534C>T	ENSP00000472710.1:p.Asp178=
NM_000528.3:c.543C>T	NP_000519.2:p.Asp181=
NM_001173498.1:c.543C>T	NP_001166969.1:p.Asp181=
XM_005259913.1:c.543C>T	XP_005259970.1:p.Asp181=
XM_005259913.2:c.543C>T	XP_005259970.1:p.Asp181=
XM_024451518.1:c.-476C>T	XP_024307286.1:n.-476C>T
NM_000528.4:c.543C>T MANE Select	NP_000519.2:p.Asp181=
NM_001173498.2:c.543C>T	NP_001166969.1:p.Asp181=