Canonical Allele Identifier: CA9226039

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 968446
• ClinVar RCV Id: RCV001243581
• dbSNP Id: rs367852398
• ExAC: 19:12759955 G / A
• gnomAD v2: 19-12759955-G-A
• gnomAD v3: 19-12649141-G-A
• gnomAD v4: 19-12649141-G-A
• MyVariant Identifiers: chr19:g.12759955G>A (hg19) ; chr19:g.12649141G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649141G>A , CM000681.2:g.12649141G>A	GRCh38
NC_000019.9:g.12759955G>A , CM000681.1:g.12759955G>A	GRCh37
NC_000019.8:g.12620955G>A	NCBI36
NG_008318.1:g.22637C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2431C>T MANE Select	ENSP00000395473.2:p.Leu811Phe
ENST00000221363.8:c.2428C>T	ENSP00000221363.4:p.Leu810Phe
ENST00000456935.6:c.2431C>T	ENSP00000395473.2:p.Leu811Phe
ENST00000466794.5:n.3021C>T
NM_000528.3:c.2431C>T	NP_000519.2:p.Leu811Phe
NM_001173498.1:c.2428C>T	NP_001166969.1:p.Leu810Phe
XM_005259913.1:c.2434C>T	XP_005259970.1:p.Leu812Phe
XM_011528017.1:c.1330C>T	XP_011526319.1:p.Leu444Phe
XM_005259913.2:c.2434C>T	XP_005259970.1:p.Leu812Phe
XM_024451518.1:c.1330C>T	XP_024307286.1:p.Leu444Phe
NM_000528.4:c.2431C>T MANE Select	NP_000519.2:p.Leu811Phe
NM_001173498.2:c.2428C>T	NP_001166969.1:p.Leu810Phe