Canonical Allele Identifier: CA404248749

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1290310276
• gnomAD v2: 19-12769287-G-A
• gnomAD v4: 19-12658473-G-A
• MyVariant Identifiers: chr19:g.12769287G>A (hg19) ; chr19:g.12658473G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658473G>A , CM000681.2:g.12658473G>A	GRCh38
NC_000019.9:g.12769287G>A , CM000681.1:g.12769287G>A	GRCh37
NC_000019.8:g.12630287G>A	NCBI36
NG_008318.1:g.13305C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1064C>T MANE Select	ENSP00000395473.2:p.Thr355Ile
ENST00000221363.8:c.1061C>T	ENSP00000221363.4:p.Thr354Ile
ENST00000456935.6:c.1064C>T	ENSP00000395473.2:p.Thr355Ile
ENST00000465830.1:n.145C>T
ENST00000466794.5:n.1009-129C>T
ENST00000495617.1:n.280+258C>T
NM_000528.3:c.1064C>T	NP_000519.2:p.Thr355Ile
NM_001173498.1:c.1061C>T	NP_001166969.1:p.Thr354Ile
XM_005259913.1:c.1067C>T	XP_005259970.1:p.Thr356Ile
XM_011528017.1:c.9-129C>T	XP_011526319.1:n.9-129C>T
XM_005259913.2:c.1067C>T	XP_005259970.1:p.Thr356Ile
XM_024451518.1:c.9-129C>T	XP_024307286.1:n.9-129C>T
NM_000528.4:c.1064C>T MANE Select	NP_000519.2:p.Thr355Ile
NM_001173498.2:c.1061C>T	NP_001166969.1:p.Thr354Ile