Canonical Allele Identifier: CA505624936

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1457544
• ClinVar RCV Id: RCV001949276
• dbSNP Id: rs886054230
• MyVariant Identifiers: chr19:g.12767787G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12656973G>A , CM000681.2:g.12656973G>A	GRCh38
NC_000019.9:g.12767787G>A , CM000681.1:g.12767787G>A	GRCh37
NC_000019.8:g.12628787G>A	NCBI36
NG_008318.1:g.14805C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1503C>T MANE Select	ENSP00000395473.2:p.Cys501=
ENST00000221363.8:c.1500C>T	ENSP00000221363.4:p.Cys500=
ENST00000433513.5:n.109C>T
ENST00000456935.6:c.1503C>T	ENSP00000395473.2:p.Cys501=
ENST00000466794.5:n.1402C>T
ENST00000495617.1:n.679C>T
ENST00000593686.1:c.113C>T
ENST00000595880.5:n.100C>T
NM_000528.3:c.1503C>T	NP_000519.2:p.Cys501=
NM_001173498.1:c.1500C>T	NP_001166969.1:p.Cys500=
XM_005259913.1:c.1506C>T	XP_005259970.1:p.Cys502=
XM_011528017.1:c.402C>T	XP_011526319.1:p.Cys134=
XM_005259913.2:c.1506C>T	XP_005259970.1:p.Cys502=
XM_024451518.1:c.402C>T	XP_024307286.1:p.Cys134=
NM_000528.4:c.1503C>T MANE Select	NP_000519.2:p.Cys501=
NM_001173498.2:c.1500C>T	NP_001166969.1:p.Cys500=