Canonical Allele Identifier: CA2323498560

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647286_12647287delinsAC , CM000681.2:g.12647286_12647287delinsAC	GRCh38
NC_000019.9:g.12758100_12758101delinsAC , CM000681.1:g.12758100_12758101delinsAC	GRCh37
NC_000019.8:g.12619100_12619101delinsAC	NCBI36
NG_008318.1:g.24491_24492delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2869_2870delinsGT MANE Select	ENSP00000395473.2:p.Val957=
ENST00000221363.8:c.2866_2867delinsGT	ENSP00000221363.4:p.Val956=
ENST00000456935.6:c.2869_2870delinsGT	ENSP00000395473.2:p.Val957=
ENST00000466794.5:n.3459_3460delinsGT
ENST00000469423.1:n.298_299delinsGT
ENST00000493218.5:n.280_281delinsGT
ENST00000597692.1:c.428_429delinsGT
NM_000528.3:c.2869_2870delinsGT	NP_000519.2:p.Val957=
NM_001173498.1:c.2866_2867delinsGT	NP_001166969.1:p.Val956=
XM_005259913.1:c.2872_2873delinsGT	XP_005259970.1:p.Val958=
XM_011528017.1:c.1768_1769delinsGT	XP_011526319.1:p.Val590=
XM_005259913.2:c.2872_2873delinsGT	XP_005259970.1:p.Val958=
XM_024451518.1:c.1768_1769delinsGT	XP_024307286.1:p.Val590=
NM_000528.4:c.2869_2870delinsGT MANE Select	NP_000519.2:p.Val957=
NM_001173498.2:c.2866_2867delinsGT	NP_001166969.1:p.Val956=