Canonical Allele Identifier: CA405409589
Community Standard Title: NM_014727.3(KMT2B):c.3632G>A (p.Gly1211Glu)
Gene: KMT2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35725323G>A , CM000681.2:g.35725323G>A GRCh38
NC_000019.9:g.36216224G>A , CM000681.1:g.36216224G>A GRCh37
NC_000019.8:g.40908064G>A NCBI36
NG_052906.1:g.12305G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014727.3:c.3632G>A MANE Select NP_055542.1:p.Gly1211Glu
ENST00000420124.4:c.3632G>A MANE Select ENSP00000398837.2:p.Gly1211Glu
NM_014727.2:c.3632G>A NP_055542.1:p.Gly1211Glu
ENST00000420124.2:c.3632G>A ENSP00000398837.1:p.Gly1211Glu
ENST00000673918.1:c.3566G>A ENSP00000501283.1:p.Gly1189Glu
ENST00000673918.2:c.3566G>A ENSP00000501283.1:p.Gly1189Glu
ENST00000674114.1:c.954G>A
ENST00000674114.2:c.1173G>A ENSP00000501039.2:n.1173G>A
ENST00000685609.1:c.203G>A ENSP00000509152.1:p.Gly68Glu
ENST00000691855.1:c.3174G>A
ENST00000691968.1:c.203G>A ENSP00000508504.1:p.Gly68Glu
ENST00000692961.1:c.3632G>A ENSP00000509289.1:p.Gly1211Glu
ENST00000693540.1:c.203G>A ENSP00000509503.1:p.Gly68Glu
XM_011527561.1:c.3566G>A XP_011525863.1:p.Gly1189Glu
XM_011527561.2:c.3068G>A XP_011525863.2:p.Gly1023Glu
XM_011527562.1:c.3632G>A XP_011525864.1:p.Gly1211Glu
XM_011527562.2:c.3632G>A XP_011525864.1:p.Gly1211Glu
XM_011527563.1:c.3356G>A XP_011525865.1:p.Gly1119Glu
XM_017027544.1:c.3632G>A XP_016883033.1:p.Gly1211Glu
XM_017027545.1:c.3068G>A XP_016883034.1:p.Gly1023Glu
XM_017027546.1:c.596G>A XP_016883035.1:p.Gly199Glu
XR_935878.1:n.3656G>A
XR_935878.2:n.3833G>A