Canonical Allele Identifier: CA2582720909

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12657983-AAGAAACTCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657986_12657994del , CM000681.2:g.12657986_12657994del	GRCh38
NC_000019.9:g.12768800_12768808del , CM000681.1:g.12768800_12768808del	GRCh37
NC_000019.8:g.12629800_12629808del	NCBI36
NG_008318.1:g.13786_13794del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1309+71_1309+79del MANE Select	ENSP00000395473.2:n.1309+71_1309+79del
ENST00000221363.8:c.1306+71_1306+79del	ENSP00000221363.4:n.1306+71_1306+79del
ENST00000456935.6:c.1309+71_1309+79del	ENSP00000395473.2:n.1309+71_1309+79del
ENST00000465830.1:n.473+71_473+79del
ENST00000466794.5:n.1208+71_1208+79del
ENST00000495617.1:n.281-232_281-224del
NM_000528.3:c.1309+71_1309+79del	NP_000519.2:n.1309+71_1309+79del
NM_001173498.1:c.1306+71_1306+79del	NP_001166969.1:n.1306+71_1306+79del
XM_005259913.1:c.1312+71_1312+79del	XP_005259970.1:n.1312+71_1312+79del
XM_011528017.1:c.208+71_208+79del	XP_011526319.1:n.208+71_208+79del
XM_005259913.2:c.1312+71_1312+79del	XP_005259970.1:n.1312+71_1312+79del
XM_024451518.1:c.208+71_208+79del	XP_024307286.1:n.208+71_208+79del
NM_000528.4:c.1309+71_1309+79del MANE Select	NP_000519.2:n.1309+71_1309+79del
NM_001173498.2:c.1306+71_1306+79del	NP_001166969.1:n.1306+71_1306+79del