Canonical Allele Identifier: CA382804861

Gene: KMT2A

Linked Data

• dbSNP Id: rs2134390657
• MyVariant Identifiers: chr11:g.118373863A>T (hg19) ; chr11:g.118503148A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503148A>T , CM000673.2:g.118503148A>T	GRCh38
NC_000011.9:g.118373863A>T , CM000673.1:g.118373863A>T	GRCh37
NC_000011.8:g.117879073A>T	NCBI36
NG_027813.1:g.71659A>T , LRG_613:g.71659A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.7355A>T	ENSP00000432391.3:p.Glu2452Val
ENST00000710560.1:c.7346A>T	ENSP00000518343.1:p.Glu2449Val
ENST00000649878.2:c.1295A>T	ENSP00000497891.2:p.Glu432Val
ENST00000685397.1:c.1295A>T	ENSP00000509586.1:p.Glu432Val
ENST00000686370.1:c.1295A>T	ENSP00000509179.1:p.Glu432Val
ENST00000689424.1:c.1553A>T	ENSP00000509852.1:p.Glu518Val
ENST00000691053.1:c.7328A>T	ENSP00000509168.1:p.Glu2443Val
ENST00000389506.10:c.7247A>T	ENSP00000374157.5:p.Glu2416Val
ENST00000528278.2:n.6598A>T
ENST00000534358.8:c.7256A>T MANE Select	ENSP00000436786.2:p.Glu2419Val
ENST00000649699.1:c.7133A>T	ENSP00000496927.1:p.Glu2378Val
ENST00000389506.9:c.7247A>T	ENSP00000374157.5:p.Glu2416Val
ENST00000528278.1:n.1383A>T
ENST00000534358.5:c.7256A>T	ENSP00000436786.1:p.Glu2419Val
NM_001197104.1:c.7256A>T , LRG_613t1:c.7256A>T	NP_001184033.1:p.Glu2419Val
NM_005933.3:c.7247A>T	NP_005924.2:p.Glu2416Val
XM_006718839.2:c.4739A>T	XP_006718902.2:p.Glu1580Val
XM_011542829.1:c.7355A>T	XP_011541131.1:p.Glu2452Val
XM_011542830.1:c.7352A>T	XP_011541132.1:p.Glu2451Val
XM_011542831.1:c.7346A>T	XP_011541133.1:p.Glu2449Val
XM_011542832.1:c.5162A>T	XP_011541134.1:p.Glu1721Val
XM_011542833.1:c.4838A>T	XP_011541135.1:p.Glu1613Val
XM_006718839.3:c.4739A>T	XP_006718902.2:p.Glu1580Val
XM_011542829.2:c.7355A>T	XP_011541131.1:p.Glu2452Val
XM_011542830.2:c.7352A>T	XP_011541132.1:p.Glu2451Val
XM_011542831.2:c.7346A>T	XP_011541133.1:p.Glu2449Val
XM_011542833.2:c.4838A>T	XP_011541135.1:p.Glu1613Val
NM_001197104.2:c.7256A>T MANE Select	NP_001184033.1:p.Glu2419Val
NM_005933.4:c.7247A>T	NP_005924.2:p.Glu2416Val