Canonical Allele Identifier: CA6565221
Gene: DIP2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.50732429G>A , CM000674.2:g.50732429G>A GRCh38
NC_000012.11:g.51126212G>A , CM000674.1:g.51126212G>A GRCh37
NC_000012.10:g.49412479G>A NCBI36
NG_021196.1:g.232445G>A

Transcript Alleles

HGVS Amino-acid Change
NM_173602.3:c.3874G>A MANE Select NP_775873.2:p.Val1292Ile
ENST00000301180.10:c.3874G>A MANE Select ENSP00000301180.5:p.Val1292Ile
NM_173602.2:c.3874G>A NP_775873.2:p.Val1292Ile
ENST00000301180.9:c.3874G>A ENSP00000301180.5:p.Val1292Ile
ENST00000546732.1:c.2401G>A
XM_005269044.1:c.3877G>A XP_005269101.1:p.Val1293Ile
XM_006719520.2:c.3904G>A XP_006719583.1:p.Val1302Ile
XM_006719521.2:c.3691G>A XP_006719584.1:p.Val1231Ile
XM_006719522.2:c.3523G>A XP_006719585.1:p.Val1175Ile
XM_011538594.1:c.3907G>A XP_011536896.1:p.Val1303Ile
XM_011538595.1:c.3739G>A XP_011536897.1:p.Val1247Ile
XM_011538596.1:c.3694G>A XP_011536898.1:p.Val1232Ile