Canonical Allele Identifier: CA2582720805

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12657855-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657857_12657858del , CM000681.2:g.12657857_12657858del	GRCh38
NC_000019.9:g.12768671_12768672del , CM000681.1:g.12768671_12768672del	GRCh37
NC_000019.8:g.12629671_12629672del	NCBI36
NG_008318.1:g.13921_13922del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1309+206_1309+207del MANE Select	ENSP00000395473.2:n.1309+206_1309+207del
ENST00000221363.8:c.1306+206_1306+207del	ENSP00000221363.4:n.1306+206_1306+207del
ENST00000456935.6:c.1309+206_1309+207del	ENSP00000395473.2:n.1309+206_1309+207del
ENST00000465830.1:n.473+206_473+207del
ENST00000466794.5:n.1208+206_1208+207del
ENST00000495617.1:n.281-97_281-96del
NM_000528.3:c.1309+206_1309+207del	NP_000519.2:n.1309+206_1309+207del
NM_001173498.1:c.1306+206_1306+207del	NP_001166969.1:n.1306+206_1306+207del
XM_005259913.1:c.1312+206_1312+207del	XP_005259970.1:n.1312+206_1312+207del
XM_011528017.1:c.208+206_208+207del	XP_011526319.1:n.208+206_208+207del
XM_005259913.2:c.1312+206_1312+207del	XP_005259970.1:n.1312+206_1312+207del
XM_024451518.1:c.208+206_208+207del	XP_024307286.1:n.208+206_208+207del
NM_000528.4:c.1309+206_1309+207del MANE Select	NP_000519.2:n.1309+206_1309+207del
NM_001173498.2:c.1306+206_1306+207del	NP_001166969.1:n.1306+206_1306+207del