Canonical Allele Identifier: CA505625726

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12774605A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663791A>G , CM000681.2:g.12663791A>G	GRCh38
NC_000019.9:g.12774605A>G , CM000681.1:g.12774605A>G	GRCh37
NC_000019.8:g.12635605A>G	NCBI36
NG_008318.1:g.7987T>C
NG_015814.1:g.1988A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.675T>C MANE Select	ENSP00000395473.2:p.Asp225=
ENST00000221363.8:c.675T>C	ENSP00000221363.4:p.Asp225=
ENST00000456935.6:c.675T>C	ENSP00000395473.2:p.Asp225=
ENST00000466794.5:n.657T>C
ENST00000486847.2:c.378T>C	ENSP00000470174.1:p.Asp126=
NM_000528.3:c.675T>C	NP_000519.2:p.Asp225=
NM_001173498.1:c.675T>C	NP_001166969.1:p.Asp225=
XM_005259913.1:c.675T>C	XP_005259970.1:p.Asp225=
XM_005259913.2:c.675T>C	XP_005259970.1:p.Asp225=
XM_024451518.1:c.-344T>C	XP_024307286.1:n.-344T>C
NM_000528.4:c.675T>C MANE Select	NP_000519.2:p.Asp225=
NM_001173498.2:c.675T>C	NP_001166969.1:p.Asp225=