Canonical Allele Identifier: CA404246674

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 984240
• ClinVar RCV Id: RCV001264250
• dbSNP Id: rs2023994563
• gnomAD v4: 19-12657459-C-T
• MyVariant Identifiers: chr19:g.12768273C>T (hg19) ; chr19:g.12657459C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657459C>T , CM000681.2:g.12657459C>T	GRCh38
NC_000019.9:g.12768273C>T , CM000681.1:g.12768273C>T	GRCh37
NC_000019.8:g.12629273C>T	NCBI36
NG_008318.1:g.14319G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1406G>A MANE Select	ENSP00000395473.2:p.Trp469Ter
ENST00000221363.8:c.1403G>A	ENSP00000221363.4:p.Trp468Ter
ENST00000456935.6:c.1406G>A	ENSP00000395473.2:p.Trp469Ter
ENST00000465830.1:n.570G>A
ENST00000466794.5:n.1305G>A
ENST00000495617.1:n.582G>A
ENST00000593686.1:c.16G>A
NM_000528.3:c.1406G>A	NP_000519.2:p.Trp469Ter
NM_001173498.1:c.1403G>A	NP_001166969.1:p.Trp468Ter
XM_005259913.1:c.1409G>A	XP_005259970.1:p.Trp470Ter
XM_011528017.1:c.305G>A	XP_011526319.1:p.Trp102Ter
XM_005259913.2:c.1409G>A	XP_005259970.1:p.Trp470Ter
XM_024451518.1:c.305G>A	XP_024307286.1:p.Trp102Ter
NM_000528.4:c.1406G>A MANE Select	NP_000519.2:p.Trp469Ter
NM_001173498.2:c.1403G>A	NP_001166969.1:p.Trp468Ter