Canonical Allele Identifier: CA505625137

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12772077C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12661263C>G , CM000681.2:g.12661263C>G	GRCh38
NC_000019.9:g.12772077C>G , CM000681.1:g.12772077C>G	GRCh37
NC_000019.8:g.12633077C>G	NCBI36
NG_008318.1:g.10515G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.1023G>C MANE Select	ENSP00000395473.2:p.Ala341=
ENST00000221363.8:c.1023G>C	ENSP00000221363.4:p.Ala341=
ENST00000456935.6:c.1023G>C	ENSP00000395473.2:p.Ala341=
ENST00000462144.1:n.216G>C
ENST00000466794.5:n.1005G>C
NM_000528.3:c.1023G>C	NP_000519.2:p.Ala341=
NM_001173498.1:c.1023G>C	NP_001166969.1:p.Ala341=
XM_005259913.1:c.1023G>C	XP_005259970.1:p.Ala341=
XM_011528017.1:c.5G>C	XP_011526319.1:p.Arg2Pro
XM_005259913.2:c.1023G>C	XP_005259970.1:p.Ala341=
XM_024451518.1:c.5G>C	XP_024307286.1:p.Arg2Pro
NM_000528.4:c.1023G>C MANE Select	NP_000519.2:p.Ala341=
NM_001173498.2:c.1023G>C	NP_001166969.1:p.Ala341=