Canonical Allele Identifier: CA505624459

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 3014776
• ClinVar RCV Id: RCV003878399
• gnomAD v4: 19-12649196-A-C
• MyVariant Identifiers: chr19:g.12760010A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649196A>C , CM000681.2:g.12649196A>C	GRCh38
NC_000019.9:g.12760010A>C , CM000681.1:g.12760010A>C	GRCh37
NC_000019.8:g.12621010A>C	NCBI36
NG_008318.1:g.22582T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2376T>G MANE Select	ENSP00000395473.2:p.Thr792=
ENST00000221363.8:c.2373T>G	ENSP00000221363.4:p.Thr791=
ENST00000456935.6:c.2376T>G	ENSP00000395473.2:p.Thr792=
ENST00000466794.5:n.2966T>G
NM_000528.3:c.2376T>G	NP_000519.2:p.Thr792=
NM_001173498.1:c.2373T>G	NP_001166969.1:p.Thr791=
XM_005259913.1:c.2379T>G	XP_005259970.1:p.Thr793=
XM_011528017.1:c.1275T>G	XP_011526319.1:p.Thr425=
XM_005259913.2:c.2379T>G	XP_005259970.1:p.Thr793=
XM_024451518.1:c.1275T>G	XP_024307286.1:p.Thr425=
NM_000528.4:c.2376T>G MANE Select	NP_000519.2:p.Thr792=
NM_001173498.2:c.2373T>G	NP_001166969.1:p.Thr791=