Canonical Allele Identifier: CA6564401
Community Standard Title: NM_173602.3(DIP2B):c.1046C>G (p.Thr349Ser)
Gene: DIP2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.50678808C>G , CM000674.2:g.50678808C>G GRCh38
NC_000012.11:g.51072591C>G , CM000674.1:g.51072591C>G GRCh37
NC_000012.10:g.49358858C>G NCBI36
NG_021196.1:g.178824C>G

Transcript Alleles

HGVS Amino-acid Change
NM_173602.3:c.1046C>G MANE Select NP_775873.2:p.Thr349Ser
ENST00000301180.10:c.1046C>G MANE Select ENSP00000301180.5:p.Thr349Ser
NM_173602.2:c.1046C>G NP_775873.2:p.Thr349Ser
ENST00000301180.9:c.1046C>G ENSP00000301180.5:p.Thr349Ser
ENST00000546719.1:n.823C>G
ENST00000549620.5:n.1202C>G
XM_005269044.1:c.1049C>G XP_005269101.1:p.Thr350Ser
XM_006719520.2:c.1076C>G XP_006719583.1:p.Thr359Ser
XM_006719521.2:c.863C>G XP_006719584.1:p.Thr288Ser
XM_006719522.2:c.695C>G XP_006719585.1:p.Thr232Ser
XM_011538594.1:c.1079C>G XP_011536896.1:p.Thr360Ser
XM_011538595.1:c.1079C>G XP_011536897.1:p.Thr360Ser
XM_011538596.1:c.866C>G XP_011536898.1:p.Thr289Ser