Canonical Allele Identifier: CA2582720372

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12657235-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657235T>G , CM000681.2:g.12657235T>G	GRCh38
NC_000019.9:g.12768049T>G , CM000681.1:g.12768049T>G	GRCh37
NC_000019.8:g.12629049T>G	NCBI36
NG_008318.1:g.14543A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1420-179A>C MANE Select	ENSP00000395473.2:n.1420-179A>C
ENST00000221363.8:c.1417-179A>C	ENSP00000221363.4:n.1417-179A>C
ENST00000433513.5:n.1A>C
ENST00000456935.6:c.1420-179A>C	ENSP00000395473.2:n.1420-179A>C
ENST00000466794.5:n.1319-179A>C
ENST00000495617.1:n.596-179A>C
ENST00000593686.1:c.30-179A>C
ENST00000595880.5:n.16+129A>C
NM_000528.3:c.1420-179A>C	NP_000519.2:n.1420-179A>C
NM_001173498.1:c.1417-179A>C	NP_001166969.1:n.1417-179A>C
XM_005259913.1:c.1423-179A>C	XP_005259970.1:n.1423-179A>C
XM_011528017.1:c.319-179A>C	XP_011526319.1:n.319-179A>C
XM_005259913.2:c.1423-179A>C	XP_005259970.1:n.1423-179A>C
XM_024451518.1:c.319-179A>C	XP_024307286.1:n.319-179A>C
NM_000528.4:c.1420-179A>C MANE Select	NP_000519.2:n.1420-179A>C
NM_001173498.2:c.1417-179A>C	NP_001166969.1:n.1417-179A>C