Canonical Allele Identifier: CA405425751
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732670G>T , CM000681.2:g.35732670G>T GRCh38
NC_000019.9:g.36223571G>T , CM000681.1:g.36223571G>T GRCh37
NC_000019.8:g.40915411G>T NCBI36
NG_052906.1:g.19652G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.427G>T
ENST00000673918.2:c.6055G>T ENSP00000501283.1:p.Val2019Leu
ENST00000674114.2:c.3662G>T ENSP00000501039.2:n.3662G>T
ENST00000684977.1:c.1339G>T ENSP00000509384.1:p.Val447Leu
ENST00000689544.1:n.1274G>T
ENST00000691421.1:c.1342G>T ENSP00000508674.1:p.Val448Leu
ENST00000691855.1:c.5663G>T
ENST00000692961.1:c.6121G>T ENSP00000509289.1:p.Val2041Leu
ENST00000693677.1:c.704+341G>T ENSP00000509779.1:n.704+341G>T
ENST00000420124.4:c.6121G>T MANE Select ENSP00000398837.2:p.Val2041Leu
ENST00000673918.1:c.6055G>T ENSP00000501283.1:p.Val2019Leu
ENST00000674114.1:c.3443G>T
ENST00000420124.2:c.6121G>T ENSP00000398837.1:p.Val2041Leu
NM_014727.2:c.6121G>T NP_055542.1:p.Val2041Leu
XM_011527561.1:c.6055G>T XP_011525863.1:p.Val2019Leu
XM_011527562.1:c.6121G>T XP_011525864.1:p.Val2041Leu
XM_011527563.1:c.5845G>T XP_011525865.1:p.Val1949Leu
XM_011527561.2:c.5557G>T XP_011525863.2:p.Val1853Leu
XM_011527562.2:c.6121G>T XP_011525864.1:p.Val2041Leu
XM_017027544.1:c.6121G>T XP_016883033.1:p.Val2041Leu
XM_017027545.1:c.5557G>T XP_016883034.1:p.Val1853Leu
XM_017027546.1:c.3085G>T XP_016883035.1:p.Val1029Leu
NM_014727.3:c.6121G>T MANE Select NP_055542.1:p.Val2041Leu