Canonical Allele Identifier: CA2582721020

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12658405-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658405A>G , CM000681.2:g.12658405A>G	GRCh38
NC_000019.9:g.12769219A>G , CM000681.1:g.12769219A>G	GRCh37
NC_000019.8:g.12630219A>G	NCBI36
NG_008318.1:g.13373T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.1109+23T>C MANE Select	ENSP00000395473.2:n.1109+23T>C
ENST00000221363.8:c.1106+23T>C	ENSP00000221363.4:n.1106+23T>C
ENST00000456935.6:c.1109+23T>C	ENSP00000395473.2:n.1109+23T>C
ENST00000465830.1:n.213T>C
ENST00000466794.5:n.1009-61T>C
ENST00000495617.1:n.280+326T>C
NM_000528.3:c.1109+23T>C	NP_000519.2:n.1109+23T>C
NM_001173498.1:c.1106+23T>C	NP_001166969.1:n.1106+23T>C
XM_005259913.1:c.1112+23T>C	XP_005259970.1:n.1112+23T>C
XM_011528017.1:c.9-61T>C	XP_011526319.1:n.9-61T>C
XM_005259913.2:c.1112+23T>C	XP_005259970.1:n.1112+23T>C
XM_024451518.1:c.9-61T>C	XP_024307286.1:n.9-61T>C
NM_000528.4:c.1109+23T>C MANE Select	NP_000519.2:n.1109+23T>C
NM_001173498.2:c.1106+23T>C	NP_001166969.1:n.1106+23T>C