Canonical Allele Identifier: CA405428329
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732955C>A , CM000681.2:g.35732955C>A GRCh38
NC_000019.9:g.36223856C>A , CM000681.1:g.36223856C>A GRCh37
NC_000019.8:g.40915696C>A NCBI36
NG_052906.1:g.19937C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000592092.2:n.712C>A
ENST00000673918.2:c.6340C>A ENSP00000501283.1:p.Leu2114Ile
ENST00000674114.2:c.3947C>A ENSP00000501039.2:n.3947C>A
ENST00000684977.1:c.1624C>A ENSP00000509384.1:p.Leu542Ile
ENST00000689544.1:n.1559C>A
ENST00000691421.1:c.1627C>A ENSP00000508674.1:p.Leu543Ile
ENST00000691855.1:c.5948C>A
ENST00000692961.1:c.6406C>A ENSP00000509289.1:p.Leu2136Ile
ENST00000693677.1:c.704+626C>A ENSP00000509779.1:n.704+626C>A
ENST00000420124.4:c.6406C>A MANE Select ENSP00000398837.2:p.Leu2136Ile
ENST00000673918.1:c.6340C>A ENSP00000501283.1:p.Leu2114Ile
ENST00000674114.1:c.3728C>A
ENST00000420124.2:c.6406C>A ENSP00000398837.1:p.Leu2136Ile
NM_014727.2:c.6406C>A NP_055542.1:p.Leu2136Ile
XM_011527561.1:c.6340C>A XP_011525863.1:p.Leu2114Ile
XM_011527562.1:c.6406C>A XP_011525864.1:p.Leu2136Ile
XM_011527563.1:c.6130C>A XP_011525865.1:p.Leu2044Ile
XM_011527561.2:c.5842C>A XP_011525863.2:p.Leu1948Ile
XM_011527562.2:c.6406C>A XP_011525864.1:p.Leu2136Ile
XM_017027544.1:c.6406C>A XP_016883033.1:p.Leu2136Ile
XM_017027545.1:c.5842C>A XP_016883034.1:p.Leu1948Ile
XM_017027546.1:c.3370C>A XP_016883035.1:p.Leu1124Ile
NM_014727.3:c.6406C>A MANE Select NP_055542.1:p.Leu2136Ile