Canonical Allele Identifier: CA9226141

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 290029
• ClinVar RCV Id: RCV000302464 ; RCV000333615 ; RCV000514960
• dbSNP Id: rs572289342
• ExAC: 19:12760718 A / AC
• gnomAD v2: 19-12760718-A-AC
• gnomAD v3: 19-12649904-A-AC
• gnomAD v4: 19-12649904-A-AC
• MyVariant Identifiers: chr19:g.12760719dupC (hg19) ; chr19:g.12760718_12760719insC (hg19) ; chr19:g.12649905dupC (hg38) ; chr19:g.12649904_12649905insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649910dup , CM000681.2:g.12649910dup	GRCh38
NC_000019.9:g.12760724dup , CM000681.1:g.12760724dup	GRCh37
NC_000019.8:g.12621724dup	NCBI36
NG_008318.1:g.21873dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2267+8dup MANE Select	ENSP00000395473.2:n.2267+8dup
ENST00000221363.8:c.2264+8dup	ENSP00000221363.4:n.2264+8dup
ENST00000456935.6:c.2267+8dup	ENSP00000395473.2:n.2267+8dup
ENST00000466794.5:n.2857+8dup
NM_000528.3:c.2267+8dup	NP_000519.2:n.2267+8dup
NM_001173498.1:c.2264+8dup	NP_001166969.1:n.2264+8dup
XM_005259913.1:c.2270+8dup	XP_005259970.1:n.2270+8dup
XM_011528017.1:c.1166+8dup	XP_011526319.1:n.1166+8dup
XM_005259913.2:c.2270+8dup	XP_005259970.1:n.2270+8dup
XM_024451518.1:c.1166+8dup	XP_024307286.1:n.1166+8dup
NM_000528.4:c.2267+8dup MANE Select	NP_000519.2:n.2267+8dup
NM_001173498.2:c.2264+8dup	NP_001166969.1:n.2264+8dup