Canonical Allele Identifier: CA404244768

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1007372
• ClinVar RCV Id: RCV001304549
• dbSNP Id: rs769653813
• gnomAD v4: 19-12655737-A-T
• MyVariant Identifiers: chr19:g.12766551A>T (hg19) ; chr19:g.12655737A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12655737A>T , CM000681.2:g.12655737A>T	GRCh38
NC_000019.9:g.12766551A>T , CM000681.1:g.12766551A>T	GRCh37
NC_000019.8:g.12627551A>T	NCBI36
NG_008318.1:g.16041T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.1787T>A MANE Select	ENSP00000395473.2:p.Ile596Asn
ENST00000221363.8:c.1784T>A	ENSP00000221363.4:p.Ile595Asn
ENST00000433513.5:n.393T>A
ENST00000456935.6:c.1787T>A	ENSP00000395473.2:p.Ile596Asn
ENST00000466794.5:n.2377T>A
ENST00000593686.1:c.380T>A
ENST00000595880.5:n.384T>A
ENST00000596591.1:c.151T>A
NM_000528.3:c.1787T>A	NP_000519.2:p.Ile596Asn
NM_001173498.1:c.1784T>A	NP_001166969.1:p.Ile595Asn
XM_005259913.1:c.1790T>A	XP_005259970.1:p.Ile597Asn
XM_011528017.1:c.686T>A	XP_011526319.1:p.Ile229Asn
XM_005259913.2:c.1790T>A	XP_005259970.1:p.Ile597Asn
XM_024451518.1:c.686T>A	XP_024307286.1:p.Ile229Asn
NM_000528.4:c.1787T>A MANE Select	NP_000519.2:p.Ile596Asn
NM_001173498.2:c.1784T>A	NP_001166969.1:p.Ile595Asn