Canonical Allele Identifier: CA505770954

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12760947T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650133T>A , CM000681.2:g.12650133T>A	GRCh38
NC_000019.9:g.12760947T>A , CM000681.1:g.12760947T>A	GRCh37
NC_000019.8:g.12621947T>A	NCBI36
NG_008318.1:g.21645A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2136A>T MANE Select	ENSP00000395473.2:p.Leu712=
ENST00000221363.8:c.2133A>T	ENSP00000221363.4:p.Leu711=
ENST00000456935.6:c.2136A>T	ENSP00000395473.2:p.Leu712=
ENST00000466794.5:n.2726A>T
NM_000528.3:c.2136A>T	NP_000519.2:p.Leu712=
NM_001173498.1:c.2133A>T	NP_001166969.1:p.Leu711=
XM_005259913.1:c.2139A>T	XP_005259970.1:p.Leu713=
XM_011528017.1:c.1035A>T	XP_011526319.1:p.Leu345=
XM_005259913.2:c.2139A>T	XP_005259970.1:p.Leu713=
XM_024451518.1:c.1035A>T	XP_024307286.1:p.Leu345=
NM_000528.4:c.2136A>T MANE Select	NP_000519.2:p.Leu712=
NM_001173498.2:c.2133A>T	NP_001166969.1:p.Leu711=