Canonical Allele Identifier: CA404248919

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 2555740
• ClinVar RCV Id: RCV003295396
• COSMIC: COSM3388593
• MyVariant Identifiers: chr19:g.12769308C>T (hg19) ; chr19:g.12658494C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658494C>T , CM000681.2:g.12658494C>T	GRCh38
NC_000019.9:g.12769308C>T , CM000681.1:g.12769308C>T	GRCh37
NC_000019.8:g.12630308C>T	NCBI36
NG_008318.1:g.13284G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1043G>A MANE Select	ENSP00000395473.2:p.Ser348Asn
ENST00000221363.8:c.1040G>A	ENSP00000221363.4:p.Ser347Asn
ENST00000456935.6:c.1043G>A	ENSP00000395473.2:p.Ser348Asn
ENST00000465830.1:n.124G>A
ENST00000466794.5:n.1009-150G>A
ENST00000495617.1:n.280+237G>A
NM_000528.3:c.1043G>A	NP_000519.2:p.Ser348Asn
NM_001173498.1:c.1040G>A	NP_001166969.1:p.Ser347Asn
XM_005259913.1:c.1046G>A	XP_005259970.1:p.Ser349Asn
XM_011528017.1:c.9-150G>A	XP_011526319.1:n.9-150G>A
XM_005259913.2:c.1046G>A	XP_005259970.1:p.Ser349Asn
XM_024451518.1:c.9-150G>A	XP_024307286.1:n.9-150G>A
NM_000528.4:c.1043G>A MANE Select	NP_000519.2:p.Ser348Asn
NM_001173498.2:c.1040G>A	NP_001166969.1:p.Ser347Asn