Canonical Allele Identifier: CA2582721153

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12658747-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658751del , CM000681.2:g.12658751del	GRCh38
NC_000019.9:g.12769565del , CM000681.1:g.12769565del	GRCh37
NC_000019.8:g.12630565del	NCBI36
NG_008318.1:g.13030del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1027-238del MANE Select	ENSP00000395473.2:n.1027-238del
ENST00000221363.8:c.1027-241del	ENSP00000221363.4:n.1027-241del
ENST00000456935.6:c.1027-238del	ENSP00000395473.2:n.1027-238del
ENST00000466794.5:n.1009-404del
ENST00000495617.1:n.263del
NM_000528.3:c.1027-238del	NP_000519.2:n.1027-238del
NM_001173498.1:c.1027-241del	NP_001166969.1:n.1027-241del
XM_005259913.1:c.1027-235del	XP_005259970.1:n.1027-235del
XM_011528017.1:c.9-404del	XP_011526319.1:n.9-404del
XM_005259913.2:c.1027-235del	XP_005259970.1:n.1027-235del
XM_024451518.1:c.9-404del	XP_024307286.1:n.9-404del
NM_000528.4:c.1027-238del MANE Select	NP_000519.2:n.1027-238del
NM_001173498.2:c.1027-241del	NP_001166969.1:n.1027-241del