Canonical Allele Identifier: CA344273912
Community Standard Title: NM_006618.5(KDM5B):c.808+2T>C
Gene: KDM5B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.202764047A>G , CM000663.2:g.202764047A>G GRCh38
NC_000001.10:g.202733175A>G , CM000663.1:g.202733175A>G GRCh37
NC_000001.9:g.200999798A>G NCBI36
NG_050659.1:g.50361T>C

Transcript Alleles

HGVS Amino-acid Change
NM_006618.5:c.808+2T>C MANE Select NP_006609.3:n.808+2T>C
ENST00000367265.9:c.808+2T>C MANE Select ENSP00000356234.3:n.808+2T>C
NM_001314042.1:c.916+2T>C NP_001300971.1:n.916+2T>C
NM_001314042.2:c.916+2T>C NP_001300971.1:n.916+2T>C
NM_001347591.1:c.673+2T>C NP_001334520.1:n.673+2T>C
NM_001347591.2:c.673+2T>C NP_001334520.1:n.673+2T>C
NM_001399817.1:c.793+2T>C NP_001386746.1:n.793+2T>C
NM_006618.3:c.808+2T>C NP_006609.3:n.808+2T>C
NM_006618.4:c.808+2T>C NP_006609.3:n.808+2T>C
ENST00000235790.8:c.334+2T>C ENSP00000235790.4:n.334+2T>C
ENST00000235790.9:c.334+2T>C ENSP00000235790.4:n.334+2T>C
ENST00000367264.6:c.916+2T>C ENSP00000356233.2:n.916+2T>C
ENST00000367264.7:c.916+2T>C ENSP00000356233.2:n.916+2T>C
ENST00000367265.7:c.808+2T>C ENSP00000356234.3:n.808+2T>C
ENST00000647757.1:n.694+2T>C
ENST00000648056.1:c.793+2T>C ENSP00000497113.1:n.793+2T>C
ENST00000648338.1:c.808+2T>C ENSP00000497564.1:n.808+2T>C
ENST00000648469.1:c.685+2T>C ENSP00000497827.1:n.685+2T>C
ENST00000648473.1:c.808+2T>C ENSP00000497743.1:n.808+2T>C
ENST00000648738.1:c.608+2T>C
ENST00000648744.1:n.381+2T>C
ENST00000649542.1:n.691+2T>C
ENST00000649770.1:c.685+2T>C ENSP00000497288.1:n.685+2T>C
ENST00000650417.1:c.*234+2T>C ENSP00000497297.1:n.*234+2T>C
ENST00000650422.1:n.1091+2T>C
ENST00000650569.1:c.673+2T>C ENSP00000497671.1:n.673+2T>C
XM_011509087.1:c.916+2T>C XP_011507389.1:n.916+2T>C
XM_011509088.1:c.673+2T>C XP_011507390.1:n.673+2T>C
XM_011509089.1:c.835+2T>C XP_011507391.1:n.835+2T>C
XM_011509090.1:c.442+2T>C XP_011507392.1:n.442+2T>C
XM_011509090.3:c.442+2T>C XP_011507392.1:n.442+2T>C
XM_011509091.1:c.442+2T>C XP_011507393.1:n.442+2T>C
XM_011509091.2:c.442+2T>C XP_011507393.1:n.442+2T>C
XM_011509092.1:c.334+2T>C XP_011507394.1:n.334+2T>C
XM_011509092.2:c.334+2T>C XP_011507394.1:n.334+2T>C