Canonical Allele Identifier: CA2582717981

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12649338-T-TAC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649339_12649340dup , CM000681.2:g.12649339_12649340dup	GRCh38
NC_000019.9:g.12760153_12760154dup , CM000681.1:g.12760153_12760154dup	GRCh37
NC_000019.8:g.12621153_12621154dup	NCBI36
NG_008318.1:g.22438_22439dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2355+1_2355+2dup MANE Select	ENSP00000395473.2:n.2355+1_2355+2dup
ENST00000221363.8:c.2352+1_2352+2dup	ENSP00000221363.4:n.2352+1_2352+2dup
ENST00000456935.6:c.2355+1_2355+2dup	ENSP00000395473.2:n.2355+1_2355+2dup
ENST00000466794.5:n.2945+1_2945+2dup
NM_000528.3:c.2355+1_2355+2dup	NP_000519.2:n.2355+1_2355+2dup
NM_001173498.1:c.2352+1_2352+2dup	NP_001166969.1:n.2352+1_2352+2dup
XM_005259913.1:c.2358+1_2358+2dup	XP_005259970.1:n.2358+1_2358+2dup
XM_011528017.1:c.1254+1_1254+2dup	XP_011526319.1:n.1254+1_1254+2dup
XM_005259913.2:c.2358+1_2358+2dup	XP_005259970.1:n.2358+1_2358+2dup
XM_024451518.1:c.1254+1_1254+2dup	XP_024307286.1:n.1254+1_1254+2dup
NM_000528.4:c.2355+1_2355+2dup MANE Select	NP_000519.2:n.2355+1_2355+2dup
NM_001173498.2:c.2352+1_2352+2dup	NP_001166969.1:n.2352+1_2352+2dup