Canonical Allele Identifier: CA9226187

Gene: MAN2B1

Linked Data

• dbSNP Id: rs778884658
• ExAC: 19:12760918 C / T
• gnomAD v2: 19-12760918-C-T
• gnomAD v4: 19-12650104-C-T
• MyVariant Identifiers: chr19:g.12760918C>T (hg19) ; chr19:g.12650104C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650104C>T , CM000681.2:g.12650104C>T	GRCh38
NC_000019.9:g.12760918C>T , CM000681.1:g.12760918C>T	GRCh37
NC_000019.8:g.12621918C>T	NCBI36
NG_008318.1:g.21674G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2165G>A MANE Select	ENSP00000395473.2:p.Gly722Asp
ENST00000221363.8:c.2162G>A	ENSP00000221363.4:p.Gly721Asp
ENST00000456935.6:c.2165G>A	ENSP00000395473.2:p.Gly722Asp
ENST00000466794.5:n.2755G>A
NM_000528.3:c.2165G>A	NP_000519.2:p.Gly722Asp
NM_001173498.1:c.2162G>A	NP_001166969.1:p.Gly721Asp
XM_005259913.1:c.2168G>A	XP_005259970.1:p.Gly723Asp
XM_011528017.1:c.1064G>A	XP_011526319.1:p.Gly355Asp
XM_005259913.2:c.2168G>A	XP_005259970.1:p.Gly723Asp
XM_024451518.1:c.1064G>A	XP_024307286.1:p.Gly355Asp
NM_000528.4:c.2165G>A MANE Select	NP_000519.2:p.Gly722Asp
NM_001173498.2:c.2162G>A	NP_001166969.1:p.Gly721Asp