Canonical Allele Identifier: CA9226736

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 2769868
• ClinVar RCV Id: RCV003499404
• dbSNP Id: rs754983892
• ExAC: 19:12774614 A / G
• gnomAD v2: 19-12774614-A-G
• gnomAD v4: 19-12663800-A-G
• MyVariant Identifiers: chr19:g.12774614A>G (hg19) ; chr19:g.12663800A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663800A>G , CM000681.2:g.12663800A>G	GRCh38
NC_000019.9:g.12774614A>G , CM000681.1:g.12774614A>G	GRCh37
NC_000019.8:g.12635614A>G	NCBI36
NG_008318.1:g.7978T>C
NG_015814.1:g.1997A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.666T>C MANE Select	ENSP00000395473.2:p.Asp222=
ENST00000221363.8:c.666T>C	ENSP00000221363.4:p.Asp222=
ENST00000456935.6:c.666T>C	ENSP00000395473.2:p.Asp222=
ENST00000466794.5:n.648T>C
ENST00000486847.2:c.369T>C	ENSP00000470174.1:p.Asp123=
NM_000528.3:c.666T>C	NP_000519.2:p.Asp222=
NM_001173498.1:c.666T>C	NP_001166969.1:p.Asp222=
XM_005259913.1:c.666T>C	XP_005259970.1:p.Asp222=
XM_005259913.2:c.666T>C	XP_005259970.1:p.Asp222=
XM_024451518.1:c.-353T>C	XP_024307286.1:n.-353T>C
NM_000528.4:c.666T>C MANE Select	NP_000519.2:p.Asp222=
NM_001173498.2:c.666T>C	NP_001166969.1:p.Asp222=