Canonical Allele Identifier: CA2582718830

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12650357-CTTTTTTTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650368_12650376del , CM000681.2:g.12650368_12650376del	GRCh38
NC_000019.9:g.12761182_12761190del , CM000681.1:g.12761182_12761190del	GRCh37
NC_000019.8:g.12622182_12622190del	NCBI36
NG_008318.1:g.21412_21420del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2047-144_2047-136del MANE Select	ENSP00000395473.2:n.2047-144_2047-136del
ENST00000221363.8:c.2044-144_2044-136del	ENSP00000221363.4:n.2044-144_2044-136del
ENST00000456935.6:c.2047-144_2047-136del	ENSP00000395473.2:n.2047-144_2047-136del
ENST00000466794.5:n.2637-144_2637-136del
NM_000528.3:c.2047-144_2047-136del	NP_000519.2:n.2047-144_2047-136del
NM_001173498.1:c.2044-144_2044-136del	NP_001166969.1:n.2044-144_2044-136del
XM_005259913.1:c.2050-144_2050-136del	XP_005259970.1:n.2050-144_2050-136del
XM_011528017.1:c.946-144_946-136del	XP_011526319.1:n.946-144_946-136del
XM_005259913.2:c.2050-144_2050-136del	XP_005259970.1:n.2050-144_2050-136del
XM_024451518.1:c.946-144_946-136del	XP_024307286.1:n.946-144_946-136del
NM_000528.4:c.2047-144_2047-136del MANE Select	NP_000519.2:n.2047-144_2047-136del
NM_001173498.2:c.2044-144_2044-136del	NP_001166969.1:n.2044-144_2044-136del