Canonical Allele Identifier: CA2323500147

Gene: MAN2B1

Linked Data

• dbSNP Id: rs2023810872
• gnomAD v4: 19-12650234-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650237del , CM000681.2:g.12650237del	GRCh38
NC_000019.9:g.12761051del , CM000681.1:g.12761051del	GRCh37
NC_000019.8:g.12622051del	NCBI36
NG_008318.1:g.21543del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2047-13del MANE Select	ENSP00000395473.2:n.2047-13del
ENST00000221363.8:c.2044-13del	ENSP00000221363.4:n.2044-13del
ENST00000456935.6:c.2047-13del	ENSP00000395473.2:n.2047-13del
ENST00000466794.5:n.2637-13del
NM_000528.3:c.2047-13del	NP_000519.2:n.2047-13del
NM_001173498.1:c.2044-13del	NP_001166969.1:n.2044-13del
XM_005259913.1:c.2050-13del	XP_005259970.1:n.2050-13del
XM_011528017.1:c.946-13del	XP_011526319.1:n.946-13del
XM_005259913.2:c.2050-13del	XP_005259970.1:n.2050-13del
XM_024451518.1:c.946-13del	XP_024307286.1:n.946-13del
NM_000528.4:c.2047-13del MANE Select	NP_000519.2:n.2047-13del
NM_001173498.2:c.2044-13del	NP_001166969.1:n.2044-13del