Canonical Allele Identifier: CA9226879

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1369850
• ClinVar RCV Id: RCV001870851
• dbSNP Id: rs781046464
• ExAC: 19:12776561 T / C
• gnomAD v2: 19-12776561-T-C
• gnomAD v3: 19-12665747-T-C
• gnomAD v4: 19-12665747-T-C
• MyVariant Identifiers: chr19:g.12776561T>C (hg19) ; chr19:g.12665747T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665747T>C , CM000681.2:g.12665747T>C	GRCh38
NC_000019.9:g.12776561T>C , CM000681.1:g.12776561T>C	GRCh37
NC_000019.8:g.12637561T>C	NCBI36
NG_008318.1:g.6031A>G
NG_015814.1:g.3944T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.218A>G MANE Select	ENSP00000395473.2:p.Asp73Gly
ENST00000221363.8:c.218A>G	ENSP00000221363.4:p.Asp73Gly
ENST00000456935.6:c.218A>G	ENSP00000395473.2:p.Asp73Gly
ENST00000466794.5:n.200A>G
ENST00000486847.2:c.160-222A>G	ENSP00000470174.1:n.160-222A>G
ENST00000596512.5:n.201-222A>G
ENST00000597961.1:c.209A>G	ENSP00000472710.1:p.Asp70Gly
ENST00000598876.1:c.245A>G	ENSP00000470533.1:p.Asp82Gly
ENST00000600281.1:n.259A>G
NM_000528.3:c.218A>G	NP_000519.2:p.Asp73Gly
NM_001173498.1:c.218A>G	NP_001166969.1:p.Asp73Gly
XM_005259913.1:c.218A>G	XP_005259970.1:p.Asp73Gly
XM_005259913.2:c.218A>G	XP_005259970.1:p.Asp73Gly
XM_024451518.1:c.-801A>G	XP_024307286.1:n.-801A>G
NM_000528.4:c.218A>G MANE Select	NP_000519.2:p.Asp73Gly
NM_001173498.2:c.218A>G	NP_001166969.1:p.Asp73Gly