Canonical Allele Identifier: CA9226328

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 728265
• ClinVar RCV Id: RCV000902709
• dbSNP Id: rs146778702
• ExAC: 19:12766559 T / C
• gnomAD v2: 19-12766559-T-C
• gnomAD v3: 19-12655745-T-C
• gnomAD v4: 19-12655745-T-C
• MyVariant Identifiers: chr19:g.12766559T>C (hg19) ; chr19:g.12655745T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12655745T>C , CM000681.2:g.12655745T>C	GRCh38
NC_000019.9:g.12766559T>C , CM000681.1:g.12766559T>C	GRCh37
NC_000019.8:g.12627559T>C	NCBI36
NG_008318.1:g.16033A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.1779A>G MANE Select	ENSP00000395473.2:p.Pro593=
ENST00000221363.8:c.1776A>G	ENSP00000221363.4:p.Pro592=
ENST00000433513.5:n.385A>G
ENST00000456935.6:c.1779A>G	ENSP00000395473.2:p.Pro593=
ENST00000466794.5:n.2369A>G
ENST00000593686.1:c.372A>G
ENST00000595880.5:n.376A>G
ENST00000596591.1:c.143A>G
NM_000528.3:c.1779A>G	NP_000519.2:p.Pro593=
NM_001173498.1:c.1776A>G	NP_001166969.1:p.Pro592=
XM_005259913.1:c.1782A>G	XP_005259970.1:p.Pro594=
XM_011528017.1:c.678A>G	XP_011526319.1:p.Pro226=
XM_005259913.2:c.1782A>G	XP_005259970.1:p.Pro594=
XM_024451518.1:c.678A>G	XP_024307286.1:p.Pro226=
NM_000528.4:c.1779A>G MANE Select	NP_000519.2:p.Pro593=
NM_001173498.2:c.1776A>G	NP_001166969.1:p.Pro592=