Canonical Allele Identifier: CA382834266
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118491208C>G , CM000673.2:g.118491208C>G GRCh38
NC_000011.9:g.118361923C>G , CM000673.1:g.118361923C>G GRCh37
NC_000011.8:g.117867133C>G NCBI36
NG_027813.1:g.59719C>G , LRG_613:g.59719C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.4808C>G ENSP00000432391.3:p.Pro1603Arg
ENST00000710560.1:c.4808C>G ENSP00000518343.1:p.Pro1603Arg
ENST00000685498.1:c.485C>G ENSP00000509293.1:p.Pro162Arg
ENST00000691053.1:c.4709C>G ENSP00000509168.1:p.Pro1570Arg
ENST00000389506.10:c.4709C>G ENSP00000374157.5:p.Pro1570Arg
ENST00000534358.8:c.4709C>G MANE Select ENSP00000436786.2:p.Pro1570Arg
ENST00000649699.1:c.4595C>G ENSP00000496927.1:p.Pro1532Arg
ENST00000389506.9:c.4709C>G ENSP00000374157.5:p.Pro1570Arg
ENST00000392873.3:c.845C>G ENSP00000376612.3:p.Pro282Arg
ENST00000534358.5:c.4709C>G ENSP00000436786.1:p.Pro1570Arg
NM_001197104.1:c.4709C>G , LRG_613t1:c.4709C>G NP_001184033.1:p.Pro1570Arg
NM_005933.3:c.4709C>G NP_005924.2:p.Pro1570Arg
XM_006718839.2:c.2192C>G XP_006718902.2:p.Pro731Arg
XM_011542829.1:c.4808C>G XP_011541131.1:p.Pro1603Arg
XM_011542830.1:c.4805C>G XP_011541132.1:p.Pro1602Arg
XM_011542831.1:c.4808C>G XP_011541133.1:p.Pro1603Arg
XM_011542832.1:c.2615C>G XP_011541134.1:p.Pro872Arg
XM_011542833.1:c.2291C>G XP_011541135.1:p.Pro764Arg
XM_006718839.3:c.2192C>G XP_006718902.2:p.Pro731Arg
XM_011542829.2:c.4808C>G XP_011541131.1:p.Pro1603Arg
XM_011542830.2:c.4805C>G XP_011541132.1:p.Pro1602Arg
XM_011542831.2:c.4808C>G XP_011541133.1:p.Pro1603Arg
XM_011542833.2:c.2291C>G XP_011541135.1:p.Pro764Arg
NM_001197104.2:c.4709C>G MANE Select NP_001184033.1:p.Pro1570Arg
NM_005933.4:c.4709C>G NP_005924.2:p.Pro1570Arg