Canonical Allele Identifier: CA2582722096

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12663626-ACAGAGCAGATATCAAGCCCAGGGCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663628_12663652del , CM000681.2:g.12663628_12663652del	GRCh38
NC_000019.9:g.12774442_12774466del , CM000681.1:g.12774442_12774466del	GRCh37
NC_000019.8:g.12635442_12635466del	NCBI36
NG_008318.1:g.8127_8151del
NG_015814.1:g.1825_1849del

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.763+52_763+76del MANE Select	ENSP00000395473.2:n.763+52_763+76del
ENST00000221363.8:c.763+52_763+76del	ENSP00000221363.4:n.763+52_763+76del
ENST00000456935.6:c.763+52_763+76del	ENSP00000395473.2:n.763+52_763+76del
ENST00000466794.5:n.745+52_745+76del
ENST00000486847.2:c.466+52_466+76del	ENSP00000470174.1:n.466+52_466+76del
NM_000528.3:c.763+52_763+76del	NP_000519.2:n.763+52_763+76del
NM_001173498.1:c.763+52_763+76del	NP_001166969.1:n.763+52_763+76del
XM_005259913.1:c.763+52_763+76del	XP_005259970.1:n.763+52_763+76del
XM_005259913.2:c.763+52_763+76del	XP_005259970.1:n.763+52_763+76del
XM_024451518.1:c.-256+52_-256+76del	XP_024307286.1:n.-256+52_-256+76del
NM_000528.4:c.763+52_763+76del MANE Select	NP_000519.2:n.763+52_763+76del
NM_001173498.2:c.763+52_763+76del	NP_001166969.1:n.763+52_763+76del