Canonical Allele Identifier: CA2582720904

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12657982-G-GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657983_12657984dup , CM000681.2:g.12657983_12657984dup	GRCh38
NC_000019.9:g.12768797_12768798dup , CM000681.1:g.12768797_12768798dup	GRCh37
NC_000019.8:g.12629797_12629798dup	NCBI36
NG_008318.1:g.13794_13795dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1309+79_1309+80dup MANE Select	ENSP00000395473.2:n.1309+79_1309+80dup
ENST00000221363.8:c.1306+79_1306+80dup	ENSP00000221363.4:n.1306+79_1306+80dup
ENST00000456935.6:c.1309+79_1309+80dup	ENSP00000395473.2:n.1309+79_1309+80dup
ENST00000465830.1:n.473+79_473+80dup
ENST00000466794.5:n.1208+79_1208+80dup
ENST00000495617.1:n.281-224_281-223dup
NM_000528.3:c.1309+79_1309+80dup	NP_000519.2:n.1309+79_1309+80dup
NM_001173498.1:c.1306+79_1306+80dup	NP_001166969.1:n.1306+79_1306+80dup
XM_005259913.1:c.1312+79_1312+80dup	XP_005259970.1:n.1312+79_1312+80dup
XM_011528017.1:c.208+79_208+80dup	XP_011526319.1:n.208+79_208+80dup
XM_005259913.2:c.1312+79_1312+80dup	XP_005259970.1:n.1312+79_1312+80dup
XM_024451518.1:c.208+79_208+80dup	XP_024307286.1:n.208+79_208+80dup
NM_000528.4:c.1309+79_1309+80dup MANE Select	NP_000519.2:n.1309+79_1309+80dup
NM_001173498.2:c.1306+79_1306+80dup	NP_001166969.1:n.1306+79_1306+80dup