Canonical Allele Identifier: CA505771127

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1925976
• ClinVar RCV Id: RCV002604977
• dbSNP Id: rs1295883552
• gnomAD v2: 19-12769280-A-G
• gnomAD v4: 19-12658466-A-G
• MyVariant Identifiers: chr19:g.12769280A>G (hg19) ; chr19:g.12658466A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658466A>G , CM000681.2:g.12658466A>G	GRCh38
NC_000019.9:g.12769280A>G , CM000681.1:g.12769280A>G	GRCh37
NC_000019.8:g.12630280A>G	NCBI36
NG_008318.1:g.13312T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1071T>C MANE Select	ENSP00000395473.2:p.Ala357=
ENST00000221363.8:c.1068T>C	ENSP00000221363.4:p.Ala356=
ENST00000456935.6:c.1071T>C	ENSP00000395473.2:p.Ala357=
ENST00000465830.1:n.152T>C
ENST00000466794.5:n.1009-122T>C
ENST00000495617.1:n.280+265T>C
NM_000528.3:c.1071T>C	NP_000519.2:p.Ala357=
NM_001173498.1:c.1068T>C	NP_001166969.1:p.Ala356=
XM_005259913.1:c.1074T>C	XP_005259970.1:p.Ala358=
XM_011528017.1:c.9-122T>C	XP_011526319.1:n.9-122T>C
XM_005259913.2:c.1074T>C	XP_005259970.1:p.Ala358=
XM_024451518.1:c.9-122T>C	XP_024307286.1:n.9-122T>C
NM_000528.4:c.1071T>C MANE Select	NP_000519.2:p.Ala357=
NM_001173498.2:c.1068T>C	NP_001166969.1:p.Ala356=