Canonical Allele Identifier: CA505625723

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12774596T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663782T>A , CM000681.2:g.12663782T>A	GRCh38
NC_000019.9:g.12774596T>A , CM000681.1:g.12774596T>A	GRCh37
NC_000019.8:g.12635596T>A	NCBI36
NG_008318.1:g.7996A>T
NG_015814.1:g.1979T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.684A>T MANE Select	ENSP00000395473.2:p.Val228=
ENST00000221363.8:c.684A>T	ENSP00000221363.4:p.Val228=
ENST00000456935.6:c.684A>T	ENSP00000395473.2:p.Val228=
ENST00000466794.5:n.666A>T
ENST00000486847.2:c.387A>T	ENSP00000470174.1:p.Val129=
NM_000528.3:c.684A>T	NP_000519.2:p.Val228=
NM_001173498.1:c.684A>T	NP_001166969.1:p.Val228=
XM_005259913.1:c.684A>T	XP_005259970.1:p.Val228=
XM_005259913.2:c.684A>T	XP_005259970.1:p.Val228=
XM_024451518.1:c.-335A>T	XP_024307286.1:n.-335A>T
NM_000528.4:c.684A>T MANE Select	NP_000519.2:p.Val228=
NM_001173498.2:c.684A>T	NP_001166969.1:p.Val228=