Canonical Allele Identifier: CA9226591

Gene: MAN2B1

Linked Data

• dbSNP Id: rs545310101
• ExAC: 19:12769210 AC / A
• gnomAD v4: 19-12658396-AC-A
• MyVariant Identifiers: chr19:g.12769211del (hg19) ; chr19:g.12658397del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658403del , CM000681.2:g.12658403del	GRCh38
NC_000019.9:g.12769217del , CM000681.1:g.12769217del	GRCh37
NC_000019.8:g.12630217del	NCBI36
NG_008318.1:g.13381del

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.1109+31del MANE Select	ENSP00000395473.2:n.1109+31del
ENST00000221363.8:c.1106+31del	ENSP00000221363.4:n.1106+31del
ENST00000456935.6:c.1109+31del	ENSP00000395473.2:n.1109+31del
ENST00000465830.1:n.221del
ENST00000466794.5:n.1009-53del
ENST00000495617.1:n.280+334del
NM_000528.3:c.1109+31del	NP_000519.2:n.1109+31del
NM_001173498.1:c.1106+31del	NP_001166969.1:n.1106+31del
XM_005259913.1:c.1112+31del	XP_005259970.1:n.1112+31del
XM_011528017.1:c.9-53del	XP_011526319.1:n.9-53del
XM_005259913.2:c.1112+31del	XP_005259970.1:n.1112+31del
XM_024451518.1:c.9-53del	XP_024307286.1:n.9-53del
NM_000528.4:c.1109+31del MANE Select	NP_000519.2:n.1109+31del
NM_001173498.2:c.1106+31del	NP_001166969.1:n.1106+31del