Canonical Allele Identifier: CA2504727001

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12658398-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658398C>A , CM000681.2:g.12658398C>A	GRCh38
NC_000019.9:g.12769212C>A , CM000681.1:g.12769212C>A	GRCh37
NC_000019.8:g.12630212C>A	NCBI36
NG_008318.1:g.13380G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.1109+30G>T MANE Select	ENSP00000395473.2:n.1109+30G>T
ENST00000221363.8:c.1106+30G>T	ENSP00000221363.4:n.1106+30G>T
ENST00000456935.6:c.1109+30G>T	ENSP00000395473.2:n.1109+30G>T
ENST00000465830.1:n.220G>T
ENST00000466794.5:n.1009-54G>T
ENST00000495617.1:n.280+333G>T
NM_000528.3:c.1109+30G>T	NP_000519.2:n.1109+30G>T
NM_001173498.1:c.1106+30G>T	NP_001166969.1:n.1106+30G>T
XM_005259913.1:c.1112+30G>T	XP_005259970.1:n.1112+30G>T
XM_011528017.1:c.9-54G>T	XP_011526319.1:n.9-54G>T
XM_005259913.2:c.1112+30G>T	XP_005259970.1:n.1112+30G>T
XM_024451518.1:c.9-54G>T	XP_024307286.1:n.9-54G>T
NM_000528.4:c.1109+30G>T MANE Select	NP_000519.2:n.1109+30G>T
NM_001173498.2:c.1106+30G>T	NP_001166969.1:n.1106+30G>T