Canonical Allele Identifier: CA2582720875

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12657970-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657970_12657971insC , CM000681.2:g.12657970_12657971insC	GRCh38
NC_000019.9:g.12768784_12768785insC , CM000681.1:g.12768784_12768785insC	GRCh37
NC_000019.8:g.12629784_12629785insC	NCBI36
NG_008318.1:g.13807_13808insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1309+92_1309+93insG MANE Select	ENSP00000395473.2:n.1309+92_1309+93insG
ENST00000221363.8:c.1306+92_1306+93insG	ENSP00000221363.4:n.1306+92_1306+93insG
ENST00000456935.6:c.1309+92_1309+93insG	ENSP00000395473.2:n.1309+92_1309+93insG
ENST00000465830.1:n.473+92_473+93insG
ENST00000466794.5:n.1208+92_1208+93insG
ENST00000495617.1:n.281-211_281-210insG
NM_000528.3:c.1309+92_1309+93insG	NP_000519.2:n.1309+92_1309+93insG
NM_001173498.1:c.1306+92_1306+93insG	NP_001166969.1:n.1306+92_1306+93insG
XM_005259913.1:c.1312+92_1312+93insG	XP_005259970.1:n.1312+92_1312+93insG
XM_011528017.1:c.208+92_208+93insG	XP_011526319.1:n.208+92_208+93insG
XM_005259913.2:c.1312+92_1312+93insG	XP_005259970.1:n.1312+92_1312+93insG
XM_024451518.1:c.208+92_208+93insG	XP_024307286.1:n.208+92_208+93insG
NM_000528.4:c.1309+92_1309+93insG MANE Select	NP_000519.2:n.1309+92_1309+93insG
NM_001173498.2:c.1306+92_1306+93insG	NP_001166969.1:n.1306+92_1306+93insG