Canonical Allele Identifier: CA382802972

Gene: KMT2A

Linked Data

• MyVariant Identifiers: chr11:g.118373382T>A (hg19) ; chr11:g.118502667T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118502667T>A , CM000673.2:g.118502667T>A	GRCh38
NC_000011.9:g.118373382T>A , CM000673.1:g.118373382T>A	GRCh37
NC_000011.8:g.117878592T>A	NCBI36
NG_027813.1:g.71178T>A , LRG_613:g.71178T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000531904.7:c.6874T>A	ENSP00000432391.3:p.Leu2292Ile
ENST00000710560.1:c.6865T>A	ENSP00000518343.1:p.Leu2289Ile
ENST00000649878.2:c.814T>A	ENSP00000497891.2:p.Leu272Ile
ENST00000685397.1:c.814T>A	ENSP00000509586.1:p.Leu272Ile
ENST00000686370.1:c.814T>A	ENSP00000509179.1:p.Leu272Ile
ENST00000689424.1:c.1072T>A	ENSP00000509852.1:p.Leu358Ile
ENST00000691053.1:c.6847T>A	ENSP00000509168.1:p.Leu2283Ile
ENST00000389506.10:c.6766T>A	ENSP00000374157.5:p.Leu2256Ile
ENST00000528278.2:n.6117T>A
ENST00000534358.8:c.6775T>A MANE Select	ENSP00000436786.2:p.Leu2259Ile
ENST00000649699.1:c.6652T>A	ENSP00000496927.1:p.Leu2218Ile
ENST00000389506.9:c.6766T>A	ENSP00000374157.5:p.Leu2256Ile
ENST00000528278.1:n.902T>A
ENST00000534358.5:c.6775T>A	ENSP00000436786.1:p.Leu2259Ile
NM_001197104.1:c.6775T>A , LRG_613t1:c.6775T>A	NP_001184033.1:p.Leu2259Ile
NM_005933.3:c.6766T>A	NP_005924.2:p.Leu2256Ile
XM_006718839.2:c.4258T>A	XP_006718902.2:p.Leu1420Ile
XM_011542829.1:c.6874T>A	XP_011541131.1:p.Leu2292Ile
XM_011542830.1:c.6871T>A	XP_011541132.1:p.Leu2291Ile
XM_011542831.1:c.6865T>A	XP_011541133.1:p.Leu2289Ile
XM_011542832.1:c.4681T>A	XP_011541134.1:p.Leu1561Ile
XM_011542833.1:c.4357T>A	XP_011541135.1:p.Leu1453Ile
XM_006718839.3:c.4258T>A	XP_006718902.2:p.Leu1420Ile
XM_011542829.2:c.6874T>A	XP_011541131.1:p.Leu2292Ile
XM_011542830.2:c.6871T>A	XP_011541132.1:p.Leu2291Ile
XM_011542831.2:c.6865T>A	XP_011541133.1:p.Leu2289Ile
XM_011542833.2:c.4357T>A	XP_011541135.1:p.Leu1453Ile
NM_001197104.2:c.6775T>A MANE Select	NP_001184033.1:p.Leu2259Ile
NM_005933.4:c.6766T>A	NP_005924.2:p.Leu2256Ile