Canonical Allele Identifier: CA2582718820

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12650354-A-ATTAT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650356_12650357insATTT , CM000681.2:g.12650356_12650357insATTT	GRCh38
NC_000019.9:g.12761170_12761171insATTT , CM000681.1:g.12761170_12761171insATTT	GRCh37
NC_000019.8:g.12622170_12622171insATTT	NCBI36
NG_008318.1:g.21423_21424insATAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2047-133_2047-132insATAA MANE Select	ENSP00000395473.2:n.2047-133_2047-132insATAA
ENST00000221363.8:c.2044-133_2044-132insATAA	ENSP00000221363.4:n.2044-133_2044-132insATAA
ENST00000456935.6:c.2047-133_2047-132insATAA	ENSP00000395473.2:n.2047-133_2047-132insATAA
ENST00000466794.5:n.2637-133_2637-132insATAA
NM_000528.3:c.2047-133_2047-132insATAA	NP_000519.2:n.2047-133_2047-132insATAA
NM_001173498.1:c.2044-133_2044-132insATAA	NP_001166969.1:n.2044-133_2044-132insATAA
XM_005259913.1:c.2050-133_2050-132insATAA	XP_005259970.1:n.2050-133_2050-132insATAA
XM_011528017.1:c.946-133_946-132insATAA	XP_011526319.1:n.946-133_946-132insATAA
XM_005259913.2:c.2050-133_2050-132insATAA	XP_005259970.1:n.2050-133_2050-132insATAA
XM_024451518.1:c.946-133_946-132insATAA	XP_024307286.1:n.946-133_946-132insATAA
NM_000528.4:c.2047-133_2047-132insATAA MANE Select	NP_000519.2:n.2047-133_2047-132insATAA
NM_001173498.2:c.2044-133_2044-132insATAA	NP_001166969.1:n.2044-133_2044-132insATAA