Canonical Allele Identifier: CA505624697

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12766559T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12655745T>G , CM000681.2:g.12655745T>G	GRCh38
NC_000019.9:g.12766559T>G , CM000681.1:g.12766559T>G	GRCh37
NC_000019.8:g.12627559T>G	NCBI36
NG_008318.1:g.16033A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.1779A>C MANE Select	ENSP00000395473.2:p.Pro593=
ENST00000221363.8:c.1776A>C	ENSP00000221363.4:p.Pro592=
ENST00000433513.5:n.385A>C
ENST00000456935.6:c.1779A>C	ENSP00000395473.2:p.Pro593=
ENST00000466794.5:n.2369A>C
ENST00000593686.1:c.372A>C
ENST00000595880.5:n.376A>C
ENST00000596591.1:c.143A>C
NM_000528.3:c.1779A>C	NP_000519.2:p.Pro593=
NM_001173498.1:c.1776A>C	NP_001166969.1:p.Pro592=
XM_005259913.1:c.1782A>C	XP_005259970.1:p.Pro594=
XM_011528017.1:c.678A>C	XP_011526319.1:p.Pro226=
XM_005259913.2:c.1782A>C	XP_005259970.1:p.Pro594=
XM_024451518.1:c.678A>C	XP_024307286.1:p.Pro226=
NM_000528.4:c.1779A>C MANE Select	NP_000519.2:p.Pro593=
NM_001173498.2:c.1776A>C	NP_001166969.1:p.Pro592=