Canonical Allele Identifier: CA2323507840

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1416748
• ClinVar RCV Id: RCV001947965
• dbSNP Id: rs2024217430

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665712dup , CM000681.2:g.12665712dup	GRCh38
NC_000019.9:g.12776526dup , CM000681.1:g.12776526dup	GRCh37
NC_000019.8:g.12637526dup	NCBI36
NG_008318.1:g.6069dup
NG_015814.1:g.3909dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.256dup MANE Select	ENSP00000395473.2:p.Tyr86LeufsTer6
ENST00000221363.8:c.256dup	ENSP00000221363.4:p.Tyr86LeufsTer6
ENST00000456935.6:c.256dup	ENSP00000395473.2:p.Tyr86LeufsTer6
ENST00000466794.5:n.238dup
ENST00000486847.2:c.160-184dup	ENSP00000470174.1:n.160-184dup
ENST00000596512.5:n.201-184dup
ENST00000597961.1:c.247dup	ENSP00000472710.1:p.Tyr83LeufsTer6
ENST00000598876.1:c.283dup	ENSP00000470533.1:p.Tyr95LeufsTer6
ENST00000600281.1:n.297dup
NM_000528.3:c.256dup	NP_000519.2:p.Tyr86LeufsTer6
NM_001173498.1:c.256dup	NP_001166969.1:p.Tyr86LeufsTer6
XM_005259913.1:c.256dup	XP_005259970.1:p.Tyr86LeufsTer6
XM_005259913.2:c.256dup	XP_005259970.1:p.Tyr86LeufsTer6
XM_024451518.1:c.-763dup	XP_024307286.1:n.-763dup
NM_000528.4:c.256dup MANE Select	NP_000519.2:p.Tyr86LeufsTer6
NM_001173498.2:c.256dup	NP_001166969.1:p.Tyr86LeufsTer6