Canonical Allele Identifier: CA505771035

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 2955510
• ClinVar RCV Id: RCV003810661
• MyVariant Identifiers: chr19:g.12761025C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650211C>T , CM000681.2:g.12650211C>T	GRCh38
NC_000019.9:g.12761025C>T , CM000681.1:g.12761025C>T	GRCh37
NC_000019.8:g.12622025C>T	NCBI36
NG_008318.1:g.21567G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2058G>A MANE Select	ENSP00000395473.2:p.Val686=
ENST00000221363.8:c.2055G>A	ENSP00000221363.4:p.Val685=
ENST00000456935.6:c.2058G>A	ENSP00000395473.2:p.Val686=
ENST00000466794.5:n.2648G>A
NM_000528.3:c.2058G>A	NP_000519.2:p.Val686=
NM_001173498.1:c.2055G>A	NP_001166969.1:p.Val685=
XM_005259913.1:c.2061G>A	XP_005259970.1:p.Val687=
XM_011528017.1:c.957G>A	XP_011526319.1:p.Val319=
XM_005259913.2:c.2061G>A	XP_005259970.1:p.Val687=
XM_024451518.1:c.957G>A	XP_024307286.1:p.Val319=
NM_000528.4:c.2058G>A MANE Select	NP_000519.2:p.Val686=
NM_001173498.2:c.2055G>A	NP_001166969.1:p.Val685=