Canonical Allele Identifier: CA2582718689

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12650187-TGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650188_12650190del , CM000681.2:g.12650188_12650190del	GRCh38
NC_000019.9:g.12761002_12761004del , CM000681.1:g.12761002_12761004del	GRCh37
NC_000019.8:g.12622002_12622004del	NCBI36
NG_008318.1:g.21588_21590del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2079_2081del MANE Select	ENSP00000395473.2:p.Phe693_Ser694delinsLeu
ENST00000221363.8:c.2076_2078del	ENSP00000221363.4:p.Phe692_Ser693delinsLeu
ENST00000456935.6:c.2079_2081del	ENSP00000395473.2:p.Phe693_Ser694delinsLeu
ENST00000466794.5:n.2669_2671del
NM_000528.3:c.2079_2081del	NP_000519.2:p.Phe693_Ser694delinsLeu
NM_001173498.1:c.2076_2078del	NP_001166969.1:p.Phe692_Ser693delinsLeu
XM_005259913.1:c.2082_2084del	XP_005259970.1:p.Phe694_Ser695delinsLeu
XM_011528017.1:c.978_980del	XP_011526319.1:p.Phe326_Ser327delinsLeu
XM_005259913.2:c.2082_2084del	XP_005259970.1:p.Phe694_Ser695delinsLeu
XM_024451518.1:c.978_980del	XP_024307286.1:p.Phe326_Ser327delinsLeu
NM_000528.4:c.2079_2081del MANE Select	NP_000519.2:p.Phe693_Ser694delinsLeu
NM_001173498.2:c.2076_2078del	NP_001166969.1:p.Phe692_Ser693delinsLeu