Canonical Allele Identifier: CA405425817
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732685G>A , CM000681.2:g.35732685G>A GRCh38
NC_000019.9:g.36223586G>A , CM000681.1:g.36223586G>A GRCh37
NC_000019.8:g.40915426G>A NCBI36
NG_052906.1:g.19667G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.442G>A
ENST00000673918.2:c.6070G>A ENSP00000501283.1:p.Gly2024Ser
ENST00000674114.2:c.3677G>A ENSP00000501039.2:n.3677G>A
ENST00000684977.1:c.1354G>A ENSP00000509384.1:p.Gly452Ser
ENST00000689544.1:n.1289G>A
ENST00000691421.1:c.1357G>A ENSP00000508674.1:p.Gly453Ser
ENST00000691855.1:c.5678G>A
ENST00000692961.1:c.6136G>A ENSP00000509289.1:p.Gly2046Ser
ENST00000693677.1:c.704+356G>A ENSP00000509779.1:n.704+356G>A
ENST00000420124.4:c.6136G>A MANE Select ENSP00000398837.2:p.Gly2046Ser
ENST00000673918.1:c.6070G>A ENSP00000501283.1:p.Gly2024Ser
ENST00000674114.1:c.3458G>A
ENST00000420124.2:c.6136G>A ENSP00000398837.1:p.Gly2046Ser
NM_014727.2:c.6136G>A NP_055542.1:p.Gly2046Ser
XM_011527561.1:c.6070G>A XP_011525863.1:p.Gly2024Ser
XM_011527562.1:c.6136G>A XP_011525864.1:p.Gly2046Ser
XM_011527563.1:c.5860G>A XP_011525865.1:p.Gly1954Ser
XM_011527561.2:c.5572G>A XP_011525863.2:p.Gly1858Ser
XM_011527562.2:c.6136G>A XP_011525864.1:p.Gly2046Ser
XM_017027544.1:c.6136G>A XP_016883033.1:p.Gly2046Ser
XM_017027545.1:c.5572G>A XP_016883034.1:p.Gly1858Ser
XM_017027546.1:c.3100G>A XP_016883035.1:p.Gly1034Ser
NM_014727.3:c.6136G>A MANE Select NP_055542.1:p.Gly2046Ser