Canonical Allele Identifier: CA2323507832

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1152915
• ClinVar RCV Id: RCV001494446
• dbSNP Id: rs2024216791
• gnomAD v4: 19-12665693-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665693C>T , CM000681.2:g.12665693C>T	GRCh38
NC_000019.9:g.12776507C>T , CM000681.1:g.12776507C>T	GRCh37
NC_000019.8:g.12637507C>T	NCBI36
NG_008318.1:g.6085G>A
NG_015814.1:g.3890C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.262+10G>A MANE Select	ENSP00000395473.2:n.262+10G>A
ENST00000221363.8:c.262+10G>A	ENSP00000221363.4:n.262+10G>A
ENST00000456935.6:c.262+10G>A	ENSP00000395473.2:n.262+10G>A
ENST00000466794.5:n.244+10G>A
ENST00000486847.2:c.160-168G>A	ENSP00000470174.1:n.160-168G>A
ENST00000596512.5:n.201-168G>A
ENST00000597961.1:c.253+10G>A	ENSP00000472710.1:n.253+10G>A
ENST00000598876.1:c.289+10G>A	ENSP00000470533.1:n.289+10G>A
ENST00000600281.1:n.303+10G>A
NM_000528.3:c.262+10G>A	NP_000519.2:n.262+10G>A
NM_001173498.1:c.262+10G>A	NP_001166969.1:n.262+10G>A
XM_005259913.1:c.262+10G>A	XP_005259970.1:n.262+10G>A
XM_005259913.2:c.262+10G>A	XP_005259970.1:n.262+10G>A
XM_024451518.1:c.-757+10G>A	XP_024307286.1:n.-757+10G>A
NM_000528.4:c.262+10G>A MANE Select	NP_000519.2:n.262+10G>A
NM_001173498.2:c.262+10G>A	NP_001166969.1:n.262+10G>A