Canonical Allele Identifier: CA382826549

Gene: KMT2A

Linked Data

• MyVariant Identifiers: chr11:g.118350946A>C (hg19) ; chr11:g.118480231A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118480231A>C , CM000673.2:g.118480231A>C	GRCh38
NC_000011.9:g.118350946A>C , CM000673.1:g.118350946A>C	GRCh37
NC_000011.8:g.117856156A>C	NCBI36
NG_027813.1:g.48742A>C , LRG_613:g.48742A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.3726A>C	ENSP00000432391.3:p.Gln1242His
ENST00000710560.1:c.3726A>C	ENSP00000518343.1:p.Gln1242His
ENST00000527869.7:c.1209A>C	ENSP00000432652.3:p.Gln403His
ENST00000533790.3:c.1110A>C	ENSP00000436700.3:p.Gln370His
ENST00000649690.2:c.1434A>C	ENSP00000497372.2:p.Gln478His
ENST00000685719.1:c.608A>C
ENST00000691053.1:c.3627A>C	ENSP00000509168.1:p.Gln1209His
ENST00000389506.10:c.3627A>C	ENSP00000374157.5:p.Gln1209His
ENST00000533790.2:c.879A>C	ENSP00000436700.2:p.Gln293His
ENST00000534358.8:c.3627A>C MANE Select	ENSP00000436786.2:p.Gln1209His
ENST00000648261.1:c.2397A>C	ENSP00000498126.1:p.Gln799His
ENST00000649699.1:c.3627A>C	ENSP00000496927.1:p.Gln1209His
ENST00000389506.9:c.3627A>C	ENSP00000374157.5:p.Gln1209His
ENST00000531904.6:c.3726A>C	ENSP00000432391.2:p.Gln1242His
ENST00000534358.5:c.3627A>C	ENSP00000436786.1:p.Gln1209His
NM_001197104.1:c.3627A>C , LRG_613t1:c.3627A>C	NP_001184033.1:p.Gln1209His
NM_005933.3:c.3627A>C	NP_005924.2:p.Gln1209His
XM_006718839.2:c.1110A>C	XP_006718902.2:p.Gln370His
XM_011542829.1:c.3726A>C	XP_011541131.1:p.Gln1242His
XM_011542830.1:c.3726A>C	XP_011541132.1:p.Gln1242His
XM_011542831.1:c.3726A>C	XP_011541133.1:p.Gln1242His
XM_011542832.1:c.1533A>C	XP_011541134.1:p.Gln511His
XM_011542833.1:c.1209A>C	XP_011541135.1:p.Gln403His
XM_006718839.3:c.1110A>C	XP_006718902.2:p.Gln370His
XM_011542829.2:c.3726A>C	XP_011541131.1:p.Gln1242His
XM_011542830.2:c.3726A>C	XP_011541132.1:p.Gln1242His
XM_011542831.2:c.3726A>C	XP_011541133.1:p.Gln1242His
XM_011542833.2:c.1209A>C	XP_011541135.1:p.Gln403His
NM_001197104.2:c.3627A>C MANE Select	NP_001184033.1:p.Gln1209His
NM_005933.4:c.3627A>C	NP_005924.2:p.Gln1209His