Canonical Allele Identifier: CA2582720414

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12657257-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657257_12657258insA , CM000681.2:g.12657257_12657258insA	GRCh38
NC_000019.9:g.12768071_12768072insA , CM000681.1:g.12768071_12768072insA	GRCh37
NC_000019.8:g.12629071_12629072insA	NCBI36
NG_008318.1:g.14520_14521insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1419+188_1419+189insT MANE Select	ENSP00000395473.2:n.1419+188_1419+189insT
ENST00000221363.8:c.1416+188_1416+189insT	ENSP00000221363.4:n.1416+188_1416+189insT
ENST00000456935.6:c.1419+188_1419+189insT	ENSP00000395473.2:n.1419+188_1419+189insT
ENST00000466794.5:n.1318+188_1318+189insT
ENST00000495617.1:n.595+188_595+189insT
ENST00000593686.1:c.29+188_29+189insT
ENST00000595880.5:n.16+106_16+107insT
NM_000528.3:c.1419+188_1419+189insT	NP_000519.2:n.1419+188_1419+189insT
NM_001173498.1:c.1416+188_1416+189insT	NP_001166969.1:n.1416+188_1416+189insT
XM_005259913.1:c.1422+188_1422+189insT	XP_005259970.1:n.1422+188_1422+189insT
XM_011528017.1:c.318+188_318+189insT	XP_011526319.1:n.318+188_318+189insT
XM_005259913.2:c.1422+188_1422+189insT	XP_005259970.1:n.1422+188_1422+189insT
XM_024451518.1:c.318+188_318+189insT	XP_024307286.1:n.318+188_318+189insT
NM_000528.4:c.1419+188_1419+189insT MANE Select	NP_000519.2:n.1419+188_1419+189insT
NM_001173498.2:c.1416+188_1416+189insT	NP_001166969.1:n.1416+188_1416+189insT