Canonical Allele Identifier: CA382804836

Gene: KMT2A

Linked Data

• MyVariant Identifiers: chr11:g.118373853A>C (hg19) ; chr11:g.118503138A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503138A>C , CM000673.2:g.118503138A>C	GRCh38
NC_000011.9:g.118373853A>C , CM000673.1:g.118373853A>C	GRCh37
NC_000011.8:g.117879063A>C	NCBI36
NG_027813.1:g.71649A>C , LRG_613:g.71649A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.7345A>C	ENSP00000432391.3:p.Ile2449Leu
ENST00000710560.1:c.7336A>C	ENSP00000518343.1:p.Ile2446Leu
ENST00000649878.2:c.1285A>C	ENSP00000497891.2:p.Ile429Leu
ENST00000685397.1:c.1285A>C	ENSP00000509586.1:p.Ile429Leu
ENST00000686370.1:c.1285A>C	ENSP00000509179.1:p.Ile429Leu
ENST00000689424.1:c.1543A>C	ENSP00000509852.1:p.Ile515Leu
ENST00000691053.1:c.7318A>C	ENSP00000509168.1:p.Ile2440Leu
ENST00000389506.10:c.7237A>C	ENSP00000374157.5:p.Ile2413Leu
ENST00000528278.2:n.6588A>C
ENST00000534358.8:c.7246A>C MANE Select	ENSP00000436786.2:p.Ile2416Leu
ENST00000649699.1:c.7123A>C	ENSP00000496927.1:p.Ile2375Leu
ENST00000389506.9:c.7237A>C	ENSP00000374157.5:p.Ile2413Leu
ENST00000528278.1:n.1373A>C
ENST00000534358.5:c.7246A>C	ENSP00000436786.1:p.Ile2416Leu
NM_001197104.1:c.7246A>C , LRG_613t1:c.7246A>C	NP_001184033.1:p.Ile2416Leu
NM_005933.3:c.7237A>C	NP_005924.2:p.Ile2413Leu
XM_006718839.2:c.4729A>C	XP_006718902.2:p.Ile1577Leu
XM_011542829.1:c.7345A>C	XP_011541131.1:p.Ile2449Leu
XM_011542830.1:c.7342A>C	XP_011541132.1:p.Ile2448Leu
XM_011542831.1:c.7336A>C	XP_011541133.1:p.Ile2446Leu
XM_011542832.1:c.5152A>C	XP_011541134.1:p.Ile1718Leu
XM_011542833.1:c.4828A>C	XP_011541135.1:p.Ile1610Leu
XM_006718839.3:c.4729A>C	XP_006718902.2:p.Ile1577Leu
XM_011542829.2:c.7345A>C	XP_011541131.1:p.Ile2449Leu
XM_011542830.2:c.7342A>C	XP_011541132.1:p.Ile2448Leu
XM_011542831.2:c.7336A>C	XP_011541133.1:p.Ile2446Leu
XM_011542833.2:c.4828A>C	XP_011541135.1:p.Ile1610Leu
NM_001197104.2:c.7246A>C MANE Select	NP_001184033.1:p.Ile2416Leu
NM_005933.4:c.7237A>C	NP_005924.2:p.Ile2413Leu