Canonical Allele Identifier: CA9226611

Gene: MAN2B1

Linked Data

• dbSNP Id: rs765139571
• ExAC: 19:12769307 A / T
• gnomAD v3: 19-12658493-A-T
• gnomAD v4: 19-12658493-A-T
• MyVariant Identifiers: chr19:g.12769307A>T (hg19) ; chr19:g.12658493A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658493A>T , CM000681.2:g.12658493A>T	GRCh38
NC_000019.9:g.12769307A>T , CM000681.1:g.12769307A>T	GRCh37
NC_000019.8:g.12630307A>T	NCBI36
NG_008318.1:g.13285T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.1044T>A MANE Select	ENSP00000395473.2:p.Ser348Arg
ENST00000221363.8:c.1041T>A	ENSP00000221363.4:p.Ser347Arg
ENST00000456935.6:c.1044T>A	ENSP00000395473.2:p.Ser348Arg
ENST00000465830.1:n.125T>A
ENST00000466794.5:n.1009-149T>A
ENST00000495617.1:n.280+238T>A
NM_000528.3:c.1044T>A	NP_000519.2:p.Ser348Arg
NM_001173498.1:c.1041T>A	NP_001166969.1:p.Ser347Arg
XM_005259913.1:c.1047T>A	XP_005259970.1:p.Ser349Arg
XM_011528017.1:c.9-149T>A	XP_011526319.1:n.9-149T>A
XM_005259913.2:c.1047T>A	XP_005259970.1:p.Ser349Arg
XM_024451518.1:c.9-149T>A	XP_024307286.1:n.9-149T>A
NM_000528.4:c.1044T>A MANE Select	NP_000519.2:p.Ser348Arg
NM_001173498.2:c.1041T>A	NP_001166969.1:p.Ser347Arg