Canonical Allele Identifier: CA631838217

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1386068634
• gnomAD v2: 19-12776634-C-CAAACACACATA
• gnomAD v4: 19-12665820-C-CAAACACACATA
• MyVariant Identifiers: chr19:g.12776634_12776635insAAACACACATA (hg19) ; chr19:g.12665820_12665821insAAACACACATA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665821_12665831dup , CM000681.2:g.12665821_12665831dup	GRCh38
NC_000019.9:g.12776635_12776645dup , CM000681.1:g.12776635_12776645dup	GRCh37
NC_000019.8:g.12637635_12637645dup	NCBI36
NG_008318.1:g.5947_5957dup
NG_015814.1:g.4018_4028dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.160-26_160-16dup MANE Select	ENSP00000395473.2:n.160-26_160-16dup
ENST00000221363.8:c.160-26_160-16dup	ENSP00000221363.4:n.160-26_160-16dup
ENST00000456935.6:c.160-26_160-16dup	ENSP00000395473.2:n.160-26_160-16dup
ENST00000466794.5:n.142-26_142-16dup
ENST00000486847.2:c.160-306_160-296dup	ENSP00000470174.1:n.160-306_160-296dup
ENST00000596512.5:n.201-306_201-296dup
ENST00000597961.1:c.151-26_151-16dup	ENSP00000472710.1:n.151-26_151-16dup
ENST00000598876.1:c.161_171dup	ENSP00000470533.1:p.Gly58TyrfsTer19
ENST00000600281.1:n.201-26_201-16dup
NM_000528.3:c.160-26_160-16dup	NP_000519.2:n.160-26_160-16dup
NM_001173498.1:c.160-26_160-16dup	NP_001166969.1:n.160-26_160-16dup
XM_005259913.1:c.160-26_160-16dup	XP_005259970.1:n.160-26_160-16dup
XM_005259913.2:c.160-26_160-16dup	XP_005259970.1:n.160-26_160-16dup
XM_024451518.1:c.-859-26_-859-16dup	XP_024307286.1:n.-859-26_-859-16dup
NM_000528.4:c.160-26_160-16dup MANE Select	NP_000519.2:n.160-26_160-16dup
NM_001173498.2:c.160-26_160-16dup	NP_001166969.1:n.160-26_160-16dup