Canonical Allele Identifier: CA505626042

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12775630C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12664816C>G , CM000681.2:g.12664816C>G	GRCh38
NC_000019.9:g.12775630C>G , CM000681.1:g.12775630C>G	GRCh37
NC_000019.8:g.12636630C>G	NCBI36
NG_008318.1:g.6962G>C
NG_015814.1:g.3013C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.606G>C MANE Select	ENSP00000395473.2:p.Arg202=
ENST00000221363.8:c.606G>C	ENSP00000221363.4:p.Arg202=
ENST00000456935.6:c.606G>C	ENSP00000395473.2:p.Arg202=
ENST00000466794.5:n.588G>C
ENST00000486847.2:c.333+536G>C	ENSP00000470174.1:n.333+536G>C
ENST00000596512.5:n.544G>C
NM_000528.3:c.606G>C	NP_000519.2:p.Arg202=
NM_001173498.1:c.606G>C	NP_001166969.1:p.Arg202=
XM_005259913.1:c.606G>C	XP_005259970.1:p.Arg202=
XM_005259913.2:c.606G>C	XP_005259970.1:p.Arg202=
XM_024451518.1:c.-413G>C	XP_024307286.1:n.-413G>C
NM_000528.4:c.606G>C MANE Select	NP_000519.2:p.Arg202=
NM_001173498.2:c.606G>C	NP_001166969.1:p.Arg202=