Canonical Allele Identifier: CA404237518

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12758134A>T (hg19) ; chr19:g.12647320A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647320A>T , CM000681.2:g.12647320A>T	GRCh38
NC_000019.9:g.12758134A>T , CM000681.1:g.12758134A>T	GRCh37
NC_000019.8:g.12619134A>T	NCBI36
NG_008318.1:g.24458T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2836T>A MANE Select	ENSP00000395473.2:p.Phe946Ile
ENST00000221363.8:c.2833T>A	ENSP00000221363.4:p.Phe945Ile
ENST00000456935.6:c.2836T>A	ENSP00000395473.2:p.Phe946Ile
ENST00000466794.5:n.3426T>A
ENST00000469423.1:n.265T>A
ENST00000493218.5:n.247T>A
ENST00000597692.1:c.395T>A
NM_000528.3:c.2836T>A	NP_000519.2:p.Phe946Ile
NM_001173498.1:c.2833T>A	NP_001166969.1:p.Phe945Ile
XM_005259913.1:c.2839T>A	XP_005259970.1:p.Phe947Ile
XM_011528017.1:c.1735T>A	XP_011526319.1:p.Phe579Ile
XM_005259913.2:c.2839T>A	XP_005259970.1:p.Phe947Ile
XM_024451518.1:c.1735T>A	XP_024307286.1:p.Phe579Ile
NM_000528.4:c.2836T>A MANE Select	NP_000519.2:p.Phe946Ile
NM_001173498.2:c.2833T>A	NP_001166969.1:p.Phe945Ile