Canonical Allele Identifier: CA382805655

Gene: KMT2A

Linked Data

• gnomAD v4: 11-118503349-C-T
• MyVariant Identifiers: chr11:g.118374064C>T (hg19) ; chr11:g.118503349C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503349C>T , CM000673.2:g.118503349C>T	GRCh38
NC_000011.9:g.118374064C>T , CM000673.1:g.118374064C>T	GRCh37
NC_000011.8:g.117879274C>T	NCBI36
NG_027813.1:g.71860C>T , LRG_613:g.71860C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.7556C>T	ENSP00000432391.3:p.Ser2519Phe
ENST00000710560.1:c.7547C>T	ENSP00000518343.1:p.Ser2516Phe
ENST00000649878.2:c.1496C>T	ENSP00000497891.2:p.Ser499Phe
ENST00000685397.1:c.1496C>T	ENSP00000509586.1:p.Ser499Phe
ENST00000686370.1:c.1496C>T	ENSP00000509179.1:p.Ser499Phe
ENST00000689424.1:c.1754C>T	ENSP00000509852.1:p.Ser585Phe
ENST00000691053.1:c.7529C>T	ENSP00000509168.1:p.Ser2510Phe
ENST00000389506.10:c.7448C>T	ENSP00000374157.5:p.Ser2483Phe
ENST00000528278.2:n.6799C>T
ENST00000534358.8:c.7457C>T MANE Select	ENSP00000436786.2:p.Ser2486Phe
ENST00000649699.1:c.7334C>T	ENSP00000496927.1:p.Ser2445Phe
ENST00000389506.9:c.7448C>T	ENSP00000374157.5:p.Ser2483Phe
ENST00000528278.1:n.1584C>T
ENST00000534358.5:c.7457C>T	ENSP00000436786.1:p.Ser2486Phe
NM_001197104.1:c.7457C>T , LRG_613t1:c.7457C>T	NP_001184033.1:p.Ser2486Phe
NM_005933.3:c.7448C>T	NP_005924.2:p.Ser2483Phe
XM_006718839.2:c.4940C>T	XP_006718902.2:p.Ser1647Phe
XM_011542829.1:c.7556C>T	XP_011541131.1:p.Ser2519Phe
XM_011542830.1:c.7553C>T	XP_011541132.1:p.Ser2518Phe
XM_011542831.1:c.7547C>T	XP_011541133.1:p.Ser2516Phe
XM_011542832.1:c.5363C>T	XP_011541134.1:p.Ser1788Phe
XM_011542833.1:c.5039C>T	XP_011541135.1:p.Ser1680Phe
XM_006718839.3:c.4940C>T	XP_006718902.2:p.Ser1647Phe
XM_011542829.2:c.7556C>T	XP_011541131.1:p.Ser2519Phe
XM_011542830.2:c.7553C>T	XP_011541132.1:p.Ser2518Phe
XM_011542831.2:c.7547C>T	XP_011541133.1:p.Ser2516Phe
XM_011542833.2:c.5039C>T	XP_011541135.1:p.Ser1680Phe
NM_001197104.2:c.7457C>T MANE Select	NP_001184033.1:p.Ser2486Phe
NM_005933.4:c.7448C>T	NP_005924.2:p.Ser2483Phe