Canonical Allele Identifier: CA9226878

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1110040
• ClinVar RCV Id: RCV001436123
• dbSNP Id: rs746702002
• ExAC: 19:12776557 G / A
• gnomAD v2: 19-12776557-G-A
• gnomAD v4: 19-12665743-G-A
• COSMIC: COSM1165918
• MyVariant Identifiers: chr19:g.12776557G>A (hg19) ; chr19:g.12665743G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665743G>A , CM000681.2:g.12665743G>A	GRCh38
NC_000019.9:g.12776557G>A , CM000681.1:g.12776557G>A	GRCh37
NC_000019.8:g.12637557G>A	NCBI36
NG_008318.1:g.6035C>T
NG_015814.1:g.3940G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.222C>T MANE Select	ENSP00000395473.2:p.Asp74=
ENST00000221363.8:c.222C>T	ENSP00000221363.4:p.Asp74=
ENST00000456935.6:c.222C>T	ENSP00000395473.2:p.Asp74=
ENST00000466794.5:n.204C>T
ENST00000486847.2:c.160-218C>T	ENSP00000470174.1:n.160-218C>T
ENST00000596512.5:n.201-218C>T
ENST00000597961.1:c.213C>T	ENSP00000472710.1:p.Asp71=
ENST00000598876.1:c.249C>T	ENSP00000470533.1:p.Asp83=
ENST00000600281.1:n.263C>T
NM_000528.3:c.222C>T	NP_000519.2:p.Asp74=
NM_001173498.1:c.222C>T	NP_001166969.1:p.Asp74=
XM_005259913.1:c.222C>T	XP_005259970.1:p.Asp74=
XM_005259913.2:c.222C>T	XP_005259970.1:p.Asp74=
XM_024451518.1:c.-797C>T	XP_024307286.1:n.-797C>T
NM_000528.4:c.222C>T MANE Select	NP_000519.2:p.Asp74=
NM_001173498.2:c.222C>T	NP_001166969.1:p.Asp74=