Canonical Allele Identifier: CA2323503558

Gene: MAN2B1

Linked Data

• dbSNP Id: rs2023983680
• gnomAD v4: 19-12657153-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657153T>A , CM000681.2:g.12657153T>A	GRCh38
NC_000019.9:g.12767967T>A , CM000681.1:g.12767967T>A	GRCh37
NC_000019.8:g.12628967T>A	NCBI36
NG_008318.1:g.14625A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1420-97A>T MANE Select	ENSP00000395473.2:n.1420-97A>T
ENST00000221363.8:c.1417-97A>T	ENSP00000221363.4:n.1417-97A>T
ENST00000433513.5:n.25+58A>T
ENST00000456935.6:c.1420-97A>T	ENSP00000395473.2:n.1420-97A>T
ENST00000466794.5:n.1319-97A>T
ENST00000495617.1:n.596-97A>T
ENST00000593686.1:c.30-97A>T
ENST00000595880.5:n.17-97A>T
NM_000528.3:c.1420-97A>T	NP_000519.2:n.1420-97A>T
NM_001173498.1:c.1417-97A>T	NP_001166969.1:n.1417-97A>T
XM_005259913.1:c.1423-97A>T	XP_005259970.1:n.1423-97A>T
XM_011528017.1:c.319-97A>T	XP_011526319.1:n.319-97A>T
XM_005259913.2:c.1423-97A>T	XP_005259970.1:n.1423-97A>T
XM_024451518.1:c.319-97A>T	XP_024307286.1:n.319-97A>T
NM_000528.4:c.1420-97A>T MANE Select	NP_000519.2:n.1420-97A>T
NM_001173498.2:c.1417-97A>T	NP_001166969.1:n.1417-97A>T