Canonical Allele Identifier: CA2582720913

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12657984-A-AAT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657984_12657985insAT , CM000681.2:g.12657984_12657985insAT	GRCh38
NC_000019.9:g.12768798_12768799insAT , CM000681.1:g.12768798_12768799insAT	GRCh37
NC_000019.8:g.12629798_12629799insAT	NCBI36
NG_008318.1:g.13793_13794insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1309+78_1309+79insAT MANE Select	ENSP00000395473.2:n.1309+78_1309+79insAT
ENST00000221363.8:c.1306+78_1306+79insAT	ENSP00000221363.4:n.1306+78_1306+79insAT
ENST00000456935.6:c.1309+78_1309+79insAT	ENSP00000395473.2:n.1309+78_1309+79insAT
ENST00000465830.1:n.473+78_473+79insAT
ENST00000466794.5:n.1208+78_1208+79insAT
ENST00000495617.1:n.281-225_281-224insAT
NM_000528.3:c.1309+78_1309+79insAT	NP_000519.2:n.1309+78_1309+79insAT
NM_001173498.1:c.1306+78_1306+79insAT	NP_001166969.1:n.1306+78_1306+79insAT
XM_005259913.1:c.1312+78_1312+79insAT	XP_005259970.1:n.1312+78_1312+79insAT
XM_011528017.1:c.208+78_208+79insAT	XP_011526319.1:n.208+78_208+79insAT
XM_005259913.2:c.1312+78_1312+79insAT	XP_005259970.1:n.1312+78_1312+79insAT
XM_024451518.1:c.208+78_208+79insAT	XP_024307286.1:n.208+78_208+79insAT
NM_000528.4:c.1309+78_1309+79insAT MANE Select	NP_000519.2:n.1309+78_1309+79insAT
NM_001173498.2:c.1306+78_1306+79insAT	NP_001166969.1:n.1306+78_1306+79insAT