Canonical Allele Identifier: CA382805305

Gene: KMT2A

Linked Data

• MyVariant Identifiers: chr11:g.118373982G>T (hg19) ; chr11:g.118503267G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503267G>T , CM000673.2:g.118503267G>T	GRCh38
NC_000011.9:g.118373982G>T , CM000673.1:g.118373982G>T	GRCh37
NC_000011.8:g.117879192G>T	NCBI36
NG_027813.1:g.71778G>T , LRG_613:g.71778G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.7474G>T	ENSP00000432391.3:p.Glu2492Ter
ENST00000710560.1:c.7465G>T	ENSP00000518343.1:p.Glu2489Ter
ENST00000649878.2:c.1414G>T	ENSP00000497891.2:p.Glu472Ter
ENST00000685397.1:c.1414G>T	ENSP00000509586.1:p.Glu472Ter
ENST00000686370.1:c.1414G>T	ENSP00000509179.1:p.Glu472Ter
ENST00000689424.1:c.1672G>T	ENSP00000509852.1:p.Glu558Ter
ENST00000691053.1:c.7447G>T	ENSP00000509168.1:p.Glu2483Ter
ENST00000389506.10:c.7366G>T	ENSP00000374157.5:p.Glu2456Ter
ENST00000528278.2:n.6717G>T
ENST00000534358.8:c.7375G>T MANE Select	ENSP00000436786.2:p.Glu2459Ter
ENST00000649699.1:c.7252G>T	ENSP00000496927.1:p.Glu2418Ter
ENST00000389506.9:c.7366G>T	ENSP00000374157.5:p.Glu2456Ter
ENST00000528278.1:n.1502G>T
ENST00000534358.5:c.7375G>T	ENSP00000436786.1:p.Glu2459Ter
NM_001197104.1:c.7375G>T , LRG_613t1:c.7375G>T	NP_001184033.1:p.Glu2459Ter
NM_005933.3:c.7366G>T	NP_005924.2:p.Glu2456Ter
XM_006718839.2:c.4858G>T	XP_006718902.2:p.Glu1620Ter
XM_011542829.1:c.7474G>T	XP_011541131.1:p.Glu2492Ter
XM_011542830.1:c.7471G>T	XP_011541132.1:p.Glu2491Ter
XM_011542831.1:c.7465G>T	XP_011541133.1:p.Glu2489Ter
XM_011542832.1:c.5281G>T	XP_011541134.1:p.Glu1761Ter
XM_011542833.1:c.4957G>T	XP_011541135.1:p.Glu1653Ter
XM_006718839.3:c.4858G>T	XP_006718902.2:p.Glu1620Ter
XM_011542829.2:c.7474G>T	XP_011541131.1:p.Glu2492Ter
XM_011542830.2:c.7471G>T	XP_011541132.1:p.Glu2491Ter
XM_011542831.2:c.7465G>T	XP_011541133.1:p.Glu2489Ter
XM_011542833.2:c.4957G>T	XP_011541135.1:p.Glu1653Ter
NM_001197104.2:c.7375G>T MANE Select	NP_001184033.1:p.Glu2459Ter
NM_005933.4:c.7366G>T	NP_005924.2:p.Glu2456Ter