Canonical Allele Identifier: CA993646898

Gene: MAN2B1

Linked Data

• dbSNP Id: rs2024008717
• gnomAD v3: 19-12657951-TCTC-T
• gnomAD v4: 19-12657951-TCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657952_12657954del , CM000681.2:g.12657952_12657954del	GRCh38
NC_000019.9:g.12768766_12768768del , CM000681.1:g.12768766_12768768del	GRCh37
NC_000019.8:g.12629766_12629768del	NCBI36
NG_008318.1:g.13824_13826del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1309+109_1309+111del MANE Select	ENSP00000395473.2:n.1309+109_1309+111del
ENST00000221363.8:c.1306+109_1306+111del	ENSP00000221363.4:n.1306+109_1306+111del
ENST00000456935.6:c.1309+109_1309+111del	ENSP00000395473.2:n.1309+109_1309+111del
ENST00000465830.1:n.473+109_473+111del
ENST00000466794.5:n.1208+109_1208+111del
ENST00000495617.1:n.281-194_281-192del
NM_000528.3:c.1309+109_1309+111del	NP_000519.2:n.1309+109_1309+111del
NM_001173498.1:c.1306+109_1306+111del	NP_001166969.1:n.1306+109_1306+111del
XM_005259913.1:c.1312+109_1312+111del	XP_005259970.1:n.1312+109_1312+111del
XM_011528017.1:c.208+109_208+111del	XP_011526319.1:n.208+109_208+111del
XM_005259913.2:c.1312+109_1312+111del	XP_005259970.1:n.1312+109_1312+111del
XM_024451518.1:c.208+109_208+111del	XP_024307286.1:n.208+109_208+111del
NM_000528.4:c.1309+109_1309+111del MANE Select	NP_000519.2:n.1309+109_1309+111del
NM_001173498.2:c.1306+109_1306+111del	NP_001166969.1:n.1306+109_1306+111del