Canonical Allele Identifier: CA2581952521

Gene: MAN2B1

Linked Data

• gnomAD v3: 19-12650657-C-CT
• gnomAD v4: 19-12650657-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650657_12650658insT , CM000681.2:g.12650657_12650658insT	GRCh38
NC_000019.9:g.12761471_12761472insT , CM000681.1:g.12761471_12761472insT	GRCh37
NC_000019.8:g.12622471_12622472insT	NCBI36
NG_008318.1:g.21120_21121insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2047-436_2047-435insA MANE Select	ENSP00000395473.2:n.2047-436_2047-435insA
ENST00000221363.8:c.2044-436_2044-435insA	ENSP00000221363.4:n.2044-436_2044-435insA
ENST00000456935.6:c.2047-436_2047-435insA	ENSP00000395473.2:n.2047-436_2047-435insA
ENST00000466794.5:n.2637-436_2637-435insA
NM_000528.3:c.2047-436_2047-435insA	NP_000519.2:n.2047-436_2047-435insA
NM_001173498.1:c.2044-436_2044-435insA	NP_001166969.1:n.2044-436_2044-435insA
XM_005259913.1:c.2050-436_2050-435insA	XP_005259970.1:n.2050-436_2050-435insA
XM_011528017.1:c.946-436_946-435insA	XP_011526319.1:n.946-436_946-435insA
XM_005259913.2:c.2050-436_2050-435insA	XP_005259970.1:n.2050-436_2050-435insA
XM_024451518.1:c.946-436_946-435insA	XP_024307286.1:n.946-436_946-435insA
NM_000528.4:c.2047-436_2047-435insA MANE Select	NP_000519.2:n.2047-436_2047-435insA
NM_001173498.2:c.2044-436_2044-435insA	NP_001166969.1:n.2044-436_2044-435insA