Canonical Allele Identifier: CA404256033

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12776191T>C (hg19) ; chr19:g.12665377T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665377T>C , CM000681.2:g.12665377T>C	GRCh38
NC_000019.9:g.12776191T>C , CM000681.1:g.12776191T>C	GRCh37
NC_000019.8:g.12637191T>C	NCBI36
NG_008318.1:g.6401A>G
NG_015814.1:g.3574T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.411A>G MANE Select	ENSP00000395473.2:p.Glu137=
ENST00000221363.8:c.411A>G	ENSP00000221363.4:p.Glu137=
ENST00000456935.6:c.411A>G	ENSP00000395473.2:p.Glu137=
ENST00000466794.5:n.393A>G
ENST00000486847.2:c.308A>G	ENSP00000470174.1:p.Lys103Arg
ENST00000596512.5:n.349A>G
ENST00000597961.1:c.402A>G	ENSP00000472710.1:p.Glu134=
ENST00000598876.1:c.438A>G	ENSP00000470533.1:p.Glu146=
ENST00000600281.1:n.452A>G
NM_000528.3:c.411A>G	NP_000519.2:p.Glu137=
NM_001173498.1:c.411A>G	NP_001166969.1:p.Glu137=
XM_005259913.1:c.411A>G	XP_005259970.1:p.Glu137=
XM_005259913.2:c.411A>G	XP_005259970.1:p.Glu137=
XM_024451518.1:c.-608A>G	XP_024307286.1:n.-608A>G
NM_000528.4:c.411A>G MANE Select	NP_000519.2:p.Glu137=
NM_001173498.2:c.411A>G	NP_001166969.1:p.Glu137=