Canonical Allele Identifier: CA9226560

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 751916
• ClinVar RCV Id: RCV000929025 ; RCV003895647
• dbSNP Id: rs762375074
• ExAC: 19:12769101 G / A
• gnomAD v2: 19-12769101-G-A
• gnomAD v3: 19-12658287-G-A
• gnomAD v4: 19-12658287-G-A
• COSMIC: COSM4412349
• MyVariant Identifiers: chr19:g.12769101G>A (hg19) ; chr19:g.12658287G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658287G>A , CM000681.2:g.12658287G>A	GRCh38
NC_000019.9:g.12769101G>A , CM000681.1:g.12769101G>A	GRCh37
NC_000019.8:g.12630101G>A	NCBI36
NG_008318.1:g.13491C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1167C>T MANE Select	ENSP00000395473.2:p.Thr389=
ENST00000221363.8:c.1164C>T	ENSP00000221363.4:p.Thr388=
ENST00000456935.6:c.1167C>T	ENSP00000395473.2:p.Thr389=
ENST00000465830.1:n.331C>T
ENST00000466794.5:n.1066C>T
ENST00000495617.1:n.280+444C>T
NM_000528.3:c.1167C>T	NP_000519.2:p.Thr389=
NM_001173498.1:c.1164C>T	NP_001166969.1:p.Thr388=
XM_005259913.1:c.1170C>T	XP_005259970.1:p.Thr390=
XM_011528017.1:c.66C>T	XP_011526319.1:p.Thr22=
XM_005259913.2:c.1170C>T	XP_005259970.1:p.Thr390=
XM_024451518.1:c.66C>T	XP_024307286.1:p.Thr22=
NM_000528.4:c.1167C>T MANE Select	NP_000519.2:p.Thr389=
NM_001173498.2:c.1164C>T	NP_001166969.1:p.Thr388=