Canonical Allele Identifier: CA505625075

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1591886
• ClinVar RCV Id: RCV002111490
• dbSNP Id: rs1386894008
• MyVariant Identifiers: chr19:g.12769319T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658505T>C , CM000681.2:g.12658505T>C	GRCh38
NC_000019.9:g.12769319T>C , CM000681.1:g.12769319T>C	GRCh37
NC_000019.8:g.12630319T>C	NCBI36
NG_008318.1:g.13273A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1032A>G MANE Select	ENSP00000395473.2:p.Ala344=
ENST00000221363.8:c.1029A>G	ENSP00000221363.4:p.Ala343=
ENST00000456935.6:c.1032A>G	ENSP00000395473.2:p.Ala344=
ENST00000465830.1:n.113A>G
ENST00000466794.5:n.1009-161A>G
ENST00000495617.1:n.280+226A>G
NM_000528.3:c.1032A>G	NP_000519.2:p.Ala344=
NM_001173498.1:c.1029A>G	NP_001166969.1:p.Ala343=
XM_005259913.1:c.1035A>G	XP_005259970.1:p.Ala345=
XM_011528017.1:c.9-161A>G	XP_011526319.1:n.9-161A>G
XM_005259913.2:c.1035A>G	XP_005259970.1:p.Ala345=
XM_024451518.1:c.9-161A>G	XP_024307286.1:n.9-161A>G
NM_000528.4:c.1032A>G MANE Select	NP_000519.2:p.Ala344=
NM_001173498.2:c.1029A>G	NP_001166969.1:p.Ala343=