Canonical Allele Identifier: CA404238183

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12758393T>A (hg19) ; chr19:g.12647579T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647579T>A , CM000681.2:g.12647579T>A	GRCh38
NC_000019.9:g.12758393T>A , CM000681.1:g.12758393T>A	GRCh37
NC_000019.8:g.12619393T>A	NCBI36
NG_008318.1:g.24199A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2684A>T MANE Select	ENSP00000395473.2:p.Asp895Val
ENST00000221363.8:c.2681A>T	ENSP00000221363.4:p.Asp894Val
ENST00000456935.6:c.2684A>T	ENSP00000395473.2:p.Asp895Val
ENST00000466794.5:n.3274A>T
ENST00000469423.1:n.6A>T
ENST00000493218.5:n.95A>T
ENST00000597692.1:c.243A>T
NM_000528.3:c.2684A>T	NP_000519.2:p.Asp895Val
NM_001173498.1:c.2681A>T	NP_001166969.1:p.Asp894Val
XM_005259913.1:c.2687A>T	XP_005259970.1:p.Asp896Val
XM_011528017.1:c.1583A>T	XP_011526319.1:p.Asp528Val
XM_005259913.2:c.2687A>T	XP_005259970.1:p.Asp896Val
XM_024451518.1:c.1583A>T	XP_024307286.1:p.Asp528Val
NM_000528.4:c.2684A>T MANE Select	NP_000519.2:p.Asp895Val
NM_001173498.2:c.2681A>T	NP_001166969.1:p.Asp894Val