Canonical Allele Identifier: CA382806383

Gene: KMT2A

Linked Data

• MyVariant Identifiers: chr11:g.118374268A>C (hg19) ; chr11:g.118503553A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503553A>C , CM000673.2:g.118503553A>C	GRCh38
NC_000011.9:g.118374268A>C , CM000673.1:g.118374268A>C	GRCh37
NC_000011.8:g.117879478A>C	NCBI36
NG_027813.1:g.72064A>C , LRG_613:g.72064A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000531904.7:c.7760A>C	ENSP00000432391.3:p.Glu2587Ala
ENST00000710560.1:c.7751A>C	ENSP00000518343.1:p.Glu2584Ala
ENST00000649878.2:c.1700A>C	ENSP00000497891.2:p.Glu567Ala
ENST00000685397.1:c.1700A>C	ENSP00000509586.1:p.Glu567Ala
ENST00000686370.1:c.1700A>C	ENSP00000509179.1:p.Glu567Ala
ENST00000689424.1:c.1958A>C	ENSP00000509852.1:p.Glu653Ala
ENST00000691053.1:c.7733A>C	ENSP00000509168.1:p.Glu2578Ala
ENST00000389506.10:c.7652A>C	ENSP00000374157.5:p.Glu2551Ala
ENST00000528278.2:n.7003A>C
ENST00000534358.8:c.7661A>C MANE Select	ENSP00000436786.2:p.Glu2554Ala
ENST00000649699.1:c.7538A>C	ENSP00000496927.1:p.Glu2513Ala
ENST00000389506.9:c.7652A>C	ENSP00000374157.5:p.Glu2551Ala
ENST00000528278.1:n.1788A>C
ENST00000534358.5:c.7661A>C	ENSP00000436786.1:p.Glu2554Ala
NM_001197104.1:c.7661A>C , LRG_613t1:c.7661A>C	NP_001184033.1:p.Glu2554Ala
NM_005933.3:c.7652A>C	NP_005924.2:p.Glu2551Ala
XM_006718839.2:c.5144A>C	XP_006718902.2:p.Glu1715Ala
XM_011542829.1:c.7760A>C	XP_011541131.1:p.Glu2587Ala
XM_011542830.1:c.7757A>C	XP_011541132.1:p.Glu2586Ala
XM_011542831.1:c.7751A>C	XP_011541133.1:p.Glu2584Ala
XM_011542832.1:c.5567A>C	XP_011541134.1:p.Glu1856Ala
XM_011542833.1:c.5243A>C	XP_011541135.1:p.Glu1748Ala
XM_006718839.3:c.5144A>C	XP_006718902.2:p.Glu1715Ala
XM_011542829.2:c.7760A>C	XP_011541131.1:p.Glu2587Ala
XM_011542830.2:c.7757A>C	XP_011541132.1:p.Glu2586Ala
XM_011542831.2:c.7751A>C	XP_011541133.1:p.Glu2584Ala
XM_011542833.2:c.5243A>C	XP_011541135.1:p.Glu1748Ala
NM_001197104.2:c.7661A>C MANE Select	NP_001184033.1:p.Glu2554Ala
NM_005933.4:c.7652A>C	NP_005924.2:p.Glu2551Ala