Canonical Allele Identifier: CA404244778

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12766556C>A (hg19) ; chr19:g.12655742C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12655742C>A , CM000681.2:g.12655742C>A	GRCh38
NC_000019.9:g.12766556C>A , CM000681.1:g.12766556C>A	GRCh37
NC_000019.8:g.12627556C>A	NCBI36
NG_008318.1:g.16036G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.1782G>T MANE Select	ENSP00000395473.2:p.Gln594His
ENST00000221363.8:c.1779G>T	ENSP00000221363.4:p.Gln593His
ENST00000433513.5:n.388G>T
ENST00000456935.6:c.1782G>T	ENSP00000395473.2:p.Gln594His
ENST00000466794.5:n.2372G>T
ENST00000593686.1:c.375G>T
ENST00000595880.5:n.379G>T
ENST00000596591.1:c.146G>T
NM_000528.3:c.1782G>T	NP_000519.2:p.Gln594His
NM_001173498.1:c.1779G>T	NP_001166969.1:p.Gln593His
XM_005259913.1:c.1785G>T	XP_005259970.1:p.Gln595His
XM_011528017.1:c.681G>T	XP_011526319.1:p.Gln227His
XM_005259913.2:c.1785G>T	XP_005259970.1:p.Gln595His
XM_024451518.1:c.681G>T	XP_024307286.1:p.Gln227His
NM_000528.4:c.1782G>T MANE Select	NP_000519.2:p.Gln594His
NM_001173498.2:c.1779G>T	NP_001166969.1:p.Gln593His