Canonical Allele Identifier: CA305460235

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1989183
• ClinVar RCV Id: RCV002795538
• dbSNP Id: rs976302366
• gnomAD v2: 19-12758296-G-A
• gnomAD v4: 19-12647482-G-A
• MyVariant Identifiers: chr19:g.12758296G>A (hg19) ; chr19:g.12647482G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647482G>A , CM000681.2:g.12647482G>A	GRCh38
NC_000019.9:g.12758296G>A , CM000681.1:g.12758296G>A	GRCh37
NC_000019.8:g.12619296G>A	NCBI36
NG_008318.1:g.24296C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2781C>T MANE Select	ENSP00000395473.2:p.Ser927=
ENST00000221363.8:c.2778C>T	ENSP00000221363.4:p.Ser926=
ENST00000456935.6:c.2781C>T	ENSP00000395473.2:p.Ser927=
ENST00000466794.5:n.3371C>T
ENST00000469423.1:n.103C>T
ENST00000493218.5:n.192C>T
ENST00000597692.1:c.340C>T
NM_000528.3:c.2781C>T	NP_000519.2:p.Ser927=
NM_001173498.1:c.2778C>T	NP_001166969.1:p.Ser926=
XM_005259913.1:c.2784C>T	XP_005259970.1:p.Ser928=
XM_011528017.1:c.1680C>T	XP_011526319.1:p.Ser560=
XM_005259913.2:c.2784C>T	XP_005259970.1:p.Ser928=
XM_024451518.1:c.1680C>T	XP_024307286.1:p.Ser560=
NM_000528.4:c.2781C>T MANE Select	NP_000519.2:p.Ser927=
NM_001173498.2:c.2778C>T	NP_001166969.1:p.Ser926=