Canonical Allele Identifier: CA9225821

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 328250
• ClinVar RCV Id: RCV000336410 ; RCV003332163
• dbSNP Id: rs149101136
• ExAC: 19:12757392 C / T
• gnomAD v2: 19-12757392-C-T
• gnomAD v3: 19-12646578-C-T
• gnomAD v4: 19-12646578-C-T
• MyVariant Identifiers: chr19:g.12757392C>T (hg19) ; chr19:g.12646578C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12646578C>T , CM000681.2:g.12646578C>T	GRCh38
NC_000019.9:g.12757392C>T , CM000681.1:g.12757392C>T	GRCh37
NC_000019.8:g.12618392C>T	NCBI36
NG_008318.1:g.25200G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.*42G>A MANE Select	ENSP00000395473.2:n.*42G>A
ENST00000221363.8:c.*42G>A	ENSP00000221363.4:n.*42G>A
ENST00000456935.6:c.*42G>A	ENSP00000395473.2:n.*42G>A
ENST00000466794.5:n.3668G>A
ENST00000469423.1:n.507G>A
ENST00000480851.5:n.258G>A
ENST00000493218.5:n.489G>A
ENST00000597692.1:c.637G>A
NM_000528.3:c.*42G>A	NP_000519.2:n.*42G>A
NM_001173498.1:c.*42G>A	NP_001166969.1:n.*42G>A
XM_005259913.1:c.*42G>A	XP_005259970.1:n.*42G>A
XM_011528017.1:c.*42G>A	XP_011526319.1:n.*42G>A
XM_005259913.2:c.*42G>A	XP_005259970.1:n.*42G>A
XM_024451518.1:c.*42G>A	XP_024307286.1:n.*42G>A
NM_000528.4:c.*42G>A MANE Select	NP_000519.2:n.*42G>A
NM_001173498.2:c.*42G>A	NP_001166969.1:n.*42G>A