Canonical Allele Identifier: CA2582720919

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12657987-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657988_12657989del , CM000681.2:g.12657988_12657989del	GRCh38
NC_000019.9:g.12768802_12768803del , CM000681.1:g.12768802_12768803del	GRCh37
NC_000019.8:g.12629802_12629803del	NCBI36
NG_008318.1:g.13789_13790del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1309+74_1309+75del MANE Select	ENSP00000395473.2:n.1309+74_1309+75del
ENST00000221363.8:c.1306+74_1306+75del	ENSP00000221363.4:n.1306+74_1306+75del
ENST00000456935.6:c.1309+74_1309+75del	ENSP00000395473.2:n.1309+74_1309+75del
ENST00000465830.1:n.473+74_473+75del
ENST00000466794.5:n.1208+74_1208+75del
ENST00000495617.1:n.281-229_281-228del
NM_000528.3:c.1309+74_1309+75del	NP_000519.2:n.1309+74_1309+75del
NM_001173498.1:c.1306+74_1306+75del	NP_001166969.1:n.1306+74_1306+75del
XM_005259913.1:c.1312+74_1312+75del	XP_005259970.1:n.1312+74_1312+75del
XM_011528017.1:c.208+74_208+75del	XP_011526319.1:n.208+74_208+75del
XM_005259913.2:c.1312+74_1312+75del	XP_005259970.1:n.1312+74_1312+75del
XM_024451518.1:c.208+74_208+75del	XP_024307286.1:n.208+74_208+75del
NM_000528.4:c.1309+74_1309+75del MANE Select	NP_000519.2:n.1309+74_1309+75del
NM_001173498.2:c.1306+74_1306+75del	NP_001166969.1:n.1306+74_1306+75del