Canonical Allele Identifier: CA505624928

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 2766725
• ClinVar RCV Id: RCV003499299
• MyVariant Identifiers: chr19:g.12767775C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12656961C>T , CM000681.2:g.12656961C>T	GRCh38
NC_000019.9:g.12767775C>T , CM000681.1:g.12767775C>T	GRCh37
NC_000019.8:g.12628775C>T	NCBI36
NG_008318.1:g.14817G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1515G>A MANE Select	ENSP00000395473.2:p.Gln505=
ENST00000221363.8:c.1512G>A	ENSP00000221363.4:p.Gln504=
ENST00000433513.5:n.121G>A
ENST00000456935.6:c.1515G>A	ENSP00000395473.2:p.Gln505=
ENST00000466794.5:n.1414G>A
ENST00000495617.1:n.691G>A
ENST00000593686.1:c.125G>A
ENST00000595880.5:n.112G>A
NM_000528.3:c.1515G>A	NP_000519.2:p.Gln505=
NM_001173498.1:c.1512G>A	NP_001166969.1:p.Gln504=
XM_005259913.1:c.1518G>A	XP_005259970.1:p.Gln506=
XM_011528017.1:c.414G>A	XP_011526319.1:p.Gln138=
XM_005259913.2:c.1518G>A	XP_005259970.1:p.Gln506=
XM_024451518.1:c.414G>A	XP_024307286.1:p.Gln138=
NM_000528.4:c.1515G>A MANE Select	NP_000519.2:p.Gln505=
NM_001173498.2:c.1512G>A	NP_001166969.1:p.Gln504=