Canonical Allele Identifier: CA404237312

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12758082T>G (hg19) ; chr19:g.12647268T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647268T>G , CM000681.2:g.12647268T>G	GRCh38
NC_000019.9:g.12758082T>G , CM000681.1:g.12758082T>G	GRCh37
NC_000019.8:g.12619082T>G	NCBI36
NG_008318.1:g.24510A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2888A>C MANE Select	ENSP00000395473.2:p.Glu963Ala
ENST00000221363.8:c.2885A>C	ENSP00000221363.4:p.Glu962Ala
ENST00000456935.6:c.2888A>C	ENSP00000395473.2:p.Glu963Ala
ENST00000466794.5:n.3478A>C
ENST00000469423.1:n.317A>C
ENST00000493218.5:n.299A>C
ENST00000597692.1:c.447A>C
NM_000528.3:c.2888A>C	NP_000519.2:p.Glu963Ala
NM_001173498.1:c.2885A>C	NP_001166969.1:p.Glu962Ala
XM_005259913.1:c.2891A>C	XP_005259970.1:p.Glu964Ala
XM_011528017.1:c.1787A>C	XP_011526319.1:p.Glu596Ala
XM_005259913.2:c.2891A>C	XP_005259970.1:p.Glu964Ala
XM_024451518.1:c.1787A>C	XP_024307286.1:p.Glu596Ala
NM_000528.4:c.2888A>C MANE Select	NP_000519.2:p.Glu963Ala
NM_001173498.2:c.2885A>C	NP_001166969.1:p.Glu962Ala