Canonical Allele Identifier: CA2333794516
Gene: KMT2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732812_35732815delinsCAGG , CM000681.2:g.35732812_35732815delinsCAGG GRCh38
NC_000019.9:g.36223713_36223716delinsCAGG , CM000681.1:g.36223713_36223716delinsCAGG GRCh37
NC_000019.8:g.40915553_40915556delinsCAGG NCBI36
NG_052906.1:g.19794_19797delinsCAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.569_572delinsCAGG
ENST00000673918.2:c.6197_6200delinsCAGG ENSP00000501283.1:p.Pro2066=
ENST00000674114.2:c.3804_3807delinsCAGG ENSP00000501039.2:n.3804_3807delinsCAGG
ENST00000684977.1:c.1481_1484delinsCAGG ENSP00000509384.1:p.Pro494=
ENST00000689544.1:n.1416_1419delinsCAGG
ENST00000691421.1:c.1484_1487delinsCAGG ENSP00000508674.1:p.Pro495=
ENST00000691855.1:c.5805_5808delinsCAGG
ENST00000692961.1:c.6263_6266delinsCAGG ENSP00000509289.1:p.Pro2088=
ENST00000693677.1:c.704+483_704+486delinsCAGG ENSP00000509779.1:n.704+483_704+486delinsCAGG
ENST00000420124.4:c.6263_6266delinsCAGG MANE Select ENSP00000398837.2:p.Pro2088=
ENST00000673918.1:c.6197_6200delinsCAGG ENSP00000501283.1:p.Pro2066=
ENST00000674114.1:c.3585_3588delinsCAGG
ENST00000420124.2:c.6263_6266delinsCAGG ENSP00000398837.1:p.Pro2088=
NM_014727.2:c.6263_6266delinsCAGG NP_055542.1:p.Pro2088=
XM_011527561.1:c.6197_6200delinsCAGG XP_011525863.1:p.Pro2066=
XM_011527562.1:c.6263_6266delinsCAGG XP_011525864.1:p.Pro2088=
XM_011527563.1:c.5987_5990delinsCAGG XP_011525865.1:p.Pro1996=
XM_011527561.2:c.5699_5702delinsCAGG XP_011525863.2:p.Pro1900=
XM_011527562.2:c.6263_6266delinsCAGG XP_011525864.1:p.Pro2088=
XM_017027544.1:c.6263_6266delinsCAGG XP_016883033.1:p.Pro2088=
XM_017027545.1:c.5699_5702delinsCAGG XP_016883034.1:p.Pro1900=
XM_017027546.1:c.3227_3230delinsCAGG XP_016883035.1:p.Pro1076=
NM_014727.3:c.6263_6266delinsCAGG MANE Select NP_055542.1:p.Pro2088=