Canonical Allele Identifier: CA382805806

Gene: KMT2A

Linked Data

• MyVariant Identifiers: chr11:g.118374105G>T (hg19) ; chr11:g.118503390G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503390G>T , CM000673.2:g.118503390G>T	GRCh38
NC_000011.9:g.118374105G>T , CM000673.1:g.118374105G>T	GRCh37
NC_000011.8:g.117879315G>T	NCBI36
NG_027813.1:g.71901G>T , LRG_613:g.71901G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.7597G>T	ENSP00000432391.3:p.Val2533Phe
ENST00000710560.1:c.7588G>T	ENSP00000518343.1:p.Val2530Phe
ENST00000649878.2:c.1537G>T	ENSP00000497891.2:p.Val513Phe
ENST00000685397.1:c.1537G>T	ENSP00000509586.1:p.Val513Phe
ENST00000686370.1:c.1537G>T	ENSP00000509179.1:p.Val513Phe
ENST00000689424.1:c.1795G>T	ENSP00000509852.1:p.Val599Phe
ENST00000691053.1:c.7570G>T	ENSP00000509168.1:p.Val2524Phe
ENST00000389506.10:c.7489G>T	ENSP00000374157.5:p.Val2497Phe
ENST00000528278.2:n.6840G>T
ENST00000534358.8:c.7498G>T MANE Select	ENSP00000436786.2:p.Val2500Phe
ENST00000649699.1:c.7375G>T	ENSP00000496927.1:p.Val2459Phe
ENST00000389506.9:c.7489G>T	ENSP00000374157.5:p.Val2497Phe
ENST00000528278.1:n.1625G>T
ENST00000534358.5:c.7498G>T	ENSP00000436786.1:p.Val2500Phe
NM_001197104.1:c.7498G>T , LRG_613t1:c.7498G>T	NP_001184033.1:p.Val2500Phe
NM_005933.3:c.7489G>T	NP_005924.2:p.Val2497Phe
XM_006718839.2:c.4981G>T	XP_006718902.2:p.Val1661Phe
XM_011542829.1:c.7597G>T	XP_011541131.1:p.Val2533Phe
XM_011542830.1:c.7594G>T	XP_011541132.1:p.Val2532Phe
XM_011542831.1:c.7588G>T	XP_011541133.1:p.Val2530Phe
XM_011542832.1:c.5404G>T	XP_011541134.1:p.Val1802Phe
XM_011542833.1:c.5080G>T	XP_011541135.1:p.Val1694Phe
XM_006718839.3:c.4981G>T	XP_006718902.2:p.Val1661Phe
XM_011542829.2:c.7597G>T	XP_011541131.1:p.Val2533Phe
XM_011542830.2:c.7594G>T	XP_011541132.1:p.Val2532Phe
XM_011542831.2:c.7588G>T	XP_011541133.1:p.Val2530Phe
XM_011542833.2:c.5080G>T	XP_011541135.1:p.Val1694Phe
NM_001197104.2:c.7498G>T MANE Select	NP_001184033.1:p.Val2500Phe
NM_005933.4:c.7489G>T	NP_005924.2:p.Val2497Phe