Canonical Allele Identifier: CA404244780

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12766557T>C (hg19) ; chr19:g.12655743T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12655743T>C , CM000681.2:g.12655743T>C	GRCh38
NC_000019.9:g.12766557T>C , CM000681.1:g.12766557T>C	GRCh37
NC_000019.8:g.12627557T>C	NCBI36
NG_008318.1:g.16035A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.1781A>G MANE Select	ENSP00000395473.2:p.Gln594Arg
ENST00000221363.8:c.1778A>G	ENSP00000221363.4:p.Gln593Arg
ENST00000433513.5:n.387A>G
ENST00000456935.6:c.1781A>G	ENSP00000395473.2:p.Gln594Arg
ENST00000466794.5:n.2371A>G
ENST00000593686.1:c.374A>G
ENST00000595880.5:n.378A>G
ENST00000596591.1:c.145A>G
NM_000528.3:c.1781A>G	NP_000519.2:p.Gln594Arg
NM_001173498.1:c.1778A>G	NP_001166969.1:p.Gln593Arg
XM_005259913.1:c.1784A>G	XP_005259970.1:p.Gln595Arg
XM_011528017.1:c.680A>G	XP_011526319.1:p.Gln227Arg
XM_005259913.2:c.1784A>G	XP_005259970.1:p.Gln595Arg
XM_024451518.1:c.680A>G	XP_024307286.1:p.Gln227Arg
NM_000528.4:c.1781A>G MANE Select	NP_000519.2:p.Gln594Arg
NM_001173498.2:c.1778A>G	NP_001166969.1:p.Gln593Arg