Canonical Allele Identifier: CA6303973

Gene: KMT2A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118491857A>G , CM000673.2:g.118491857A>G	GRCh38
NC_000011.9:g.118362572A>G , CM000673.1:g.118362572A>G	GRCh37
NC_000011.8:g.117867782A>G	NCBI36
NG_027813.1:g.60368A>G , LRG_613:g.60368A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001197104.2:c.4933A>G MANE Select	NP_001184033.1:p.Ile1645Val
ENST00000534358.8:c.4933A>G MANE Select	ENSP00000436786.2:p.Ile1645Val
NM_001197104.1:c.4933A>G , LRG_613t1:c.4933A>G	NP_001184033.1:p.Ile1645Val
NM_005933.3:c.4924A>G	NP_005924.2:p.Ile1642Val
NM_005933.4:c.4924A>G	NP_005924.2:p.Ile1642Val
ENST00000389506.10:c.4924A>G	ENSP00000374157.5:p.Ile1642Val
ENST00000389506.9:c.4924A>G	ENSP00000374157.5:p.Ile1642Val
ENST00000392873.3:c.1060A>G	ENSP00000376612.3:p.Ile354Val
ENST00000531904.7:c.5032A>G	ENSP00000432391.3:p.Ile1678Val
ENST00000534358.5:c.4933A>G	ENSP00000436786.1:p.Ile1645Val
ENST00000649699.1:c.4810A>G	ENSP00000496927.1:p.Ile1604Val
ENST00000685498.1:c.709A>G	ENSP00000509293.1:p.Ile237Val
ENST00000688355.1:c.114A>G
ENST00000691053.1:c.4924A>G	ENSP00000509168.1:p.Ile1642Val
ENST00000710560.1:c.5023A>G	ENSP00000518343.1:p.Ile1675Val
XM_006718839.2:c.2416A>G	XP_006718902.2:p.Ile806Val
XM_006718839.3:c.2416A>G	XP_006718902.2:p.Ile806Val
XM_011542829.1:c.5032A>G	XP_011541131.1:p.Ile1678Val
XM_011542829.2:c.5032A>G	XP_011541131.1:p.Ile1678Val
XM_011542830.1:c.5029A>G	XP_011541132.1:p.Ile1677Val
XM_011542830.2:c.5029A>G	XP_011541132.1:p.Ile1677Val
XM_011542831.1:c.5023A>G	XP_011541133.1:p.Ile1675Val
XM_011542831.2:c.5023A>G	XP_011541133.1:p.Ile1675Val
XM_011542832.1:c.2839A>G	XP_011541134.1:p.Ile947Val
XM_011542833.1:c.2515A>G	XP_011541135.1:p.Ile839Val
XM_011542833.2:c.2515A>G	XP_011541135.1:p.Ile839Val