Canonical Allele Identifier: CA505770693

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1158208
• ClinVar RCV Id: RCV001501550
• dbSNP Id: rs2145221323
• MyVariant Identifiers: chr19:g.12758293T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647479T>G , CM000681.2:g.12647479T>G	GRCh38
NC_000019.9:g.12758293T>G , CM000681.1:g.12758293T>G	GRCh37
NC_000019.8:g.12619293T>G	NCBI36
NG_008318.1:g.24299A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2784A>C MANE Select	ENSP00000395473.2:p.Gly928=
ENST00000221363.8:c.2781A>C	ENSP00000221363.4:p.Gly927=
ENST00000456935.6:c.2784A>C	ENSP00000395473.2:p.Gly928=
ENST00000466794.5:n.3374A>C
ENST00000469423.1:n.106A>C
ENST00000493218.5:n.195A>C
ENST00000597692.1:c.343A>C
NM_000528.3:c.2784A>C	NP_000519.2:p.Gly928=
NM_001173498.1:c.2781A>C	NP_001166969.1:p.Gly927=
XM_005259913.1:c.2787A>C	XP_005259970.1:p.Gly929=
XM_011528017.1:c.1683A>C	XP_011526319.1:p.Gly561=
XM_005259913.2:c.2787A>C	XP_005259970.1:p.Gly929=
XM_024451518.1:c.1683A>C	XP_024307286.1:p.Gly561=
NM_000528.4:c.2784A>C MANE Select	NP_000519.2:p.Gly928=
NM_001173498.2:c.2781A>C	NP_001166969.1:p.Gly927=