Canonical Allele Identifier: CA2582720891

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12657978-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657978_12657979insG , CM000681.2:g.12657978_12657979insG	GRCh38
NC_000019.9:g.12768792_12768793insG , CM000681.1:g.12768792_12768793insG	GRCh37
NC_000019.8:g.12629792_12629793insG	NCBI36
NG_008318.1:g.13799_13800insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1309+84_1309+85insC MANE Select	ENSP00000395473.2:n.1309+84_1309+85insC
ENST00000221363.8:c.1306+84_1306+85insC	ENSP00000221363.4:n.1306+84_1306+85insC
ENST00000456935.6:c.1309+84_1309+85insC	ENSP00000395473.2:n.1309+84_1309+85insC
ENST00000465830.1:n.473+84_473+85insC
ENST00000466794.5:n.1208+84_1208+85insC
ENST00000495617.1:n.281-219_281-218insC
NM_000528.3:c.1309+84_1309+85insC	NP_000519.2:n.1309+84_1309+85insC
NM_001173498.1:c.1306+84_1306+85insC	NP_001166969.1:n.1306+84_1306+85insC
XM_005259913.1:c.1312+84_1312+85insC	XP_005259970.1:n.1312+84_1312+85insC
XM_011528017.1:c.208+84_208+85insC	XP_011526319.1:n.208+84_208+85insC
XM_005259913.2:c.1312+84_1312+85insC	XP_005259970.1:n.1312+84_1312+85insC
XM_024451518.1:c.208+84_208+85insC	XP_024307286.1:n.208+84_208+85insC
NM_000528.4:c.1309+84_1309+85insC MANE Select	NP_000519.2:n.1309+84_1309+85insC
NM_001173498.2:c.1306+84_1306+85insC	NP_001166969.1:n.1306+84_1306+85insC