Canonical Allele Identifier: CA2582720997

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12658329-GTCATGTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658333_12658339del , CM000681.2:g.12658333_12658339del	GRCh38
NC_000019.9:g.12769147_12769153del , CM000681.1:g.12769147_12769153del	GRCh37
NC_000019.8:g.12630147_12630153del	NCBI36
NG_008318.1:g.13442_13448del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1118_1124del MANE Select	ENSP00000395473.2:p.Lys373ThrfsTer?
ENST00000221363.8:c.1115_1121del	ENSP00000221363.4:p.Lys372ThrfsTer?
ENST00000456935.6:c.1118_1124del	ENSP00000395473.2:p.Lys373ThrfsTer?
ENST00000465830.1:n.282_288del
ENST00000466794.5:n.1017_1023del
ENST00000495617.1:n.280+395_280+401del
NM_000528.3:c.1118_1124del	NP_000519.2:p.Lys373ThrfsTer?
NM_001173498.1:c.1115_1121del	NP_001166969.1:p.Lys372ThrfsTer?
XM_005259913.1:c.1121_1127del	XP_005259970.1:p.Lys374ThrfsTer?
XM_011528017.1:c.17_23del	XP_011526319.1:p.Lys6ThrfsTer?
XM_005259913.2:c.1121_1127del	XP_005259970.1:p.Lys374ThrfsTer?
XM_024451518.1:c.17_23del	XP_024307286.1:p.Lys6ThrfsTer?
NM_000528.4:c.1118_1124del MANE Select	NP_000519.2:p.Lys373ThrfsTer?
NM_001173498.2:c.1115_1121del	NP_001166969.1:p.Lys372ThrfsTer?