Canonical Allele Identifier: CA382802241

Gene: KMT2A

Linked Data

• dbSNP Id: rs2134384406
• MyVariant Identifiers: chr11:g.118373175C>T (hg19) ; chr11:g.118502460C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118502460C>T , CM000673.2:g.118502460C>T	GRCh38
NC_000011.9:g.118373175C>T , CM000673.1:g.118373175C>T	GRCh37
NC_000011.8:g.117878385C>T	NCBI36
NG_027813.1:g.70971C>T , LRG_613:g.70971C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.6667C>T	ENSP00000432391.3:p.Leu2223Phe
ENST00000710560.1:c.6658C>T	ENSP00000518343.1:p.Leu2220Phe
ENST00000649878.2:c.607C>T	ENSP00000497891.2:p.Leu203Phe
ENST00000685397.1:c.607C>T	ENSP00000509586.1:p.Leu203Phe
ENST00000686370.1:c.607C>T	ENSP00000509179.1:p.Leu203Phe
ENST00000689424.1:c.865C>T	ENSP00000509852.1:p.Leu289Phe
ENST00000691053.1:c.6640C>T	ENSP00000509168.1:p.Leu2214Phe
ENST00000389506.10:c.6559C>T	ENSP00000374157.5:p.Leu2187Phe
ENST00000528278.2:n.5910C>T
ENST00000534358.8:c.6568C>T MANE Select	ENSP00000436786.2:p.Leu2190Phe
ENST00000649699.1:c.6445C>T	ENSP00000496927.1:p.Leu2149Phe
ENST00000389506.9:c.6559C>T	ENSP00000374157.5:p.Leu2187Phe
ENST00000528278.1:n.695C>T
ENST00000534358.5:c.6568C>T	ENSP00000436786.1:p.Leu2190Phe
NM_001197104.1:c.6568C>T , LRG_613t1:c.6568C>T	NP_001184033.1:p.Leu2190Phe
NM_005933.3:c.6559C>T	NP_005924.2:p.Leu2187Phe
XM_006718839.2:c.4051C>T	XP_006718902.2:p.Leu1351Phe
XM_011542829.1:c.6667C>T	XP_011541131.1:p.Leu2223Phe
XM_011542830.1:c.6664C>T	XP_011541132.1:p.Leu2222Phe
XM_011542831.1:c.6658C>T	XP_011541133.1:p.Leu2220Phe
XM_011542832.1:c.4474C>T	XP_011541134.1:p.Leu1492Phe
XM_011542833.1:c.4150C>T	XP_011541135.1:p.Leu1384Phe
XM_006718839.3:c.4051C>T	XP_006718902.2:p.Leu1351Phe
XM_011542829.2:c.6667C>T	XP_011541131.1:p.Leu2223Phe
XM_011542830.2:c.6664C>T	XP_011541132.1:p.Leu2222Phe
XM_011542831.2:c.6658C>T	XP_011541133.1:p.Leu2220Phe
XM_011542833.2:c.4150C>T	XP_011541135.1:p.Leu1384Phe
NM_001197104.2:c.6568C>T MANE Select	NP_001184033.1:p.Leu2190Phe
NM_005933.4:c.6559C>T	NP_005924.2:p.Leu2187Phe