Canonical Allele Identifier: CA382838810

Gene: KMT2A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118495791C>T , CM000673.2:g.118495791C>T	GRCh38
NC_000011.9:g.118366506C>T , CM000673.1:g.118366506C>T	GRCh37
NC_000011.8:g.117871716C>T	NCBI36
NG_027813.1:g.64302C>T , LRG_613:g.64302C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001197104.2:c.5455C>T MANE Select	NP_001184033.1:p.Gln1819Ter
ENST00000534358.8:c.5455C>T MANE Select	ENSP00000436786.2:p.Gln1819Ter
NM_001197104.1:c.5455C>T , LRG_613t1:c.5455C>T	NP_001184033.1:p.Gln1819Ter
NM_005933.3:c.5446C>T	NP_005924.2:p.Gln1816Ter
NM_005933.4:c.5446C>T	NP_005924.2:p.Gln1816Ter
ENST00000389506.10:c.5446C>T	ENSP00000374157.5:p.Gln1816Ter
ENST00000389506.9:c.5446C>T	ENSP00000374157.5:p.Gln1816Ter
ENST00000528278.2:n.601C>T
ENST00000531904.7:c.5554C>T	ENSP00000432391.3:p.Gln1852Ter
ENST00000534358.5:c.5455C>T	ENSP00000436786.1:p.Gln1819Ter
ENST00000649699.1:c.5332C>T	ENSP00000496927.1:p.Gln1778Ter
ENST00000691002.1:c.392C>T
ENST00000691053.1:c.5446C>T	ENSP00000509168.1:p.Gln1816Ter
ENST00000693536.1:c.337C>T
ENST00000710560.1:c.5545C>T	ENSP00000518343.1:p.Gln1849Ter
XM_006718839.2:c.2938C>T	XP_006718902.2:p.Gln980Ter
XM_006718839.3:c.2938C>T	XP_006718902.2:p.Gln980Ter
XM_011542829.1:c.5554C>T	XP_011541131.1:p.Gln1852Ter
XM_011542829.2:c.5554C>T	XP_011541131.1:p.Gln1852Ter
XM_011542830.1:c.5551C>T	XP_011541132.1:p.Gln1851Ter
XM_011542830.2:c.5551C>T	XP_011541132.1:p.Gln1851Ter
XM_011542831.1:c.5545C>T	XP_011541133.1:p.Gln1849Ter
XM_011542831.2:c.5545C>T	XP_011541133.1:p.Gln1849Ter
XM_011542832.1:c.3361C>T	XP_011541134.1:p.Gln1121Ter
XM_011542833.1:c.3037C>T	XP_011541135.1:p.Gln1013Ter
XM_011542833.2:c.3037C>T	XP_011541135.1:p.Gln1013Ter