Canonical Allele Identifier: CA993647040

Gene: MAN2B1

Linked Data

• gnomAD v3: 19-12657979-A-AAAG
• gnomAD v4: 19-12657979-A-AAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657985_12657987dup , CM000681.2:g.12657985_12657987dup	GRCh38
NC_000019.9:g.12768799_12768801dup , CM000681.1:g.12768799_12768801dup	GRCh37
NC_000019.8:g.12629799_12629801dup	NCBI36
NG_008318.1:g.13796_13798dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1309+81_1309+83dup MANE Select	ENSP00000395473.2:n.1309+81_1309+83dup
ENST00000221363.8:c.1306+81_1306+83dup	ENSP00000221363.4:n.1306+81_1306+83dup
ENST00000456935.6:c.1309+81_1309+83dup	ENSP00000395473.2:n.1309+81_1309+83dup
ENST00000465830.1:n.473+81_473+83dup
ENST00000466794.5:n.1208+81_1208+83dup
ENST00000495617.1:n.281-222_281-220dup
NM_000528.3:c.1309+81_1309+83dup	NP_000519.2:n.1309+81_1309+83dup
NM_001173498.1:c.1306+81_1306+83dup	NP_001166969.1:n.1306+81_1306+83dup
XM_005259913.1:c.1312+81_1312+83dup	XP_005259970.1:n.1312+81_1312+83dup
XM_011528017.1:c.208+81_208+83dup	XP_011526319.1:n.208+81_208+83dup
XM_005259913.2:c.1312+81_1312+83dup	XP_005259970.1:n.1312+81_1312+83dup
XM_024451518.1:c.208+81_208+83dup	XP_024307286.1:n.208+81_208+83dup
NM_000528.4:c.1309+81_1309+83dup MANE Select	NP_000519.2:n.1309+81_1309+83dup
NM_001173498.2:c.1306+81_1306+83dup	NP_001166969.1:n.1306+81_1306+83dup