Canonical Allele Identifier: CA9991279
Community Standard Title: NM_016940.3(RWDD2B):c.8T>C (p.Ile3Thr)
Gene: RWDD2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.29019270A>G , CM000683.2:g.29019270A>G GRCh38
NC_000021.8:g.30391591A>G , CM000683.1:g.30391591A>G GRCh37
NC_000021.7:g.29313462A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_016940.3:c.8T>C MANE Select NP_058636.1:p.Ile3Thr
ENST00000493196.2:c.8T>C MANE Select ENSP00000418693.1:p.Ile3Thr
NM_001320724.1:c.-178T>C NP_001307653.1:n.-178T>C
NM_001320724.2:c.-178T>C NP_001307653.1:n.-178T>C
NM_016940.2:c.8T>C NP_058636.1:p.Ile3Thr
ENST00000286777.6:n.83T>C
ENST00000466746.1:n.37T>C
ENST00000471269.1:n.91T>C
ENST00000472184.1:n.90T>C
ENST00000481411.1:n.71T>C
ENST00000486719.5:n.81T>C
ENST00000493196.1:c.8T>C ENSP00000418693.1:p.Ile3Thr
XM_006723952.2:c.-178T>C XP_006724015.1:n.-178T>C