Canonical Allele Identifier: CA351019
Gene: MAN2B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 208257
ClinVar RCV Id: RCV000207009
dbSNP Id: rs864621979

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12664817C>G , CM000681.2:g.12664817C>G GRCh38
NC_000019.9:g.12775631C>G , CM000681.1:g.12775631C>G GRCh37
NC_000019.8:g.12636631C>G NCBI36
NG_008318.1:g.6961G>C
NG_015814.1:g.3014C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000456935.7:c.605G>C MANE Select ENSP00000395473.2:p.Arg202Pro
ENST00000221363.8:c.605G>C ENSP00000221363.4:p.Arg202Pro
ENST00000456935.6:c.605G>C ENSP00000395473.2:p.Arg202Pro
ENST00000466794.5:n.587G>C
ENST00000486847.2:c.333+535G>C ENSP00000470174.1:p.=
ENST00000596512.5:n.543G>C
NM_000528.3:c.605G>C NP_000519.2:p.Arg202Pro
NM_001173498.1:c.605G>C NP_001166969.1:p.Arg202Pro
XM_005259913.1:c.605G>C XP_005259970.1:p.Arg202Pro
XM_005259913.2:c.605G>C XP_005259970.1:p.Arg202Pro
XM_024451518.1:c.-414G>C XP_024307286.1:p.=
NM_000528.4:c.605G>C MANE Select NP_000519.2:p.Arg202Pro
NM_001173498.2:c.605G>C NP_001166969.1:p.Arg202Pro