Canonical Allele Identifier: CA382802617

Gene: KMT2A

Linked Data

• gnomAD v4: 11-118502560-C-A
• MyVariant Identifiers: chr11:g.118373275C>A (hg19) ; chr11:g.118502560C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118502560C>A , CM000673.2:g.118502560C>A	GRCh38
NC_000011.9:g.118373275C>A , CM000673.1:g.118373275C>A	GRCh37
NC_000011.8:g.117878485C>A	NCBI36
NG_027813.1:g.71071C>A , LRG_613:g.71071C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000531904.7:c.6767C>A	ENSP00000432391.3:p.Ser2256Tyr
ENST00000710560.1:c.6758C>A	ENSP00000518343.1:p.Ser2253Tyr
ENST00000649878.2:c.707C>A	ENSP00000497891.2:p.Ser236Tyr
ENST00000685397.1:c.707C>A	ENSP00000509586.1:p.Ser236Tyr
ENST00000686370.1:c.707C>A	ENSP00000509179.1:p.Ser236Tyr
ENST00000689424.1:c.965C>A	ENSP00000509852.1:p.Ser322Tyr
ENST00000691053.1:c.6740C>A	ENSP00000509168.1:p.Ser2247Tyr
ENST00000389506.10:c.6659C>A	ENSP00000374157.5:p.Ser2220Tyr
ENST00000528278.2:n.6010C>A
ENST00000534358.8:c.6668C>A MANE Select	ENSP00000436786.2:p.Ser2223Tyr
ENST00000649699.1:c.6545C>A	ENSP00000496927.1:p.Ser2182Tyr
ENST00000389506.9:c.6659C>A	ENSP00000374157.5:p.Ser2220Tyr
ENST00000528278.1:n.795C>A
ENST00000534358.5:c.6668C>A	ENSP00000436786.1:p.Ser2223Tyr
NM_001197104.1:c.6668C>A , LRG_613t1:c.6668C>A	NP_001184033.1:p.Ser2223Tyr
NM_005933.3:c.6659C>A	NP_005924.2:p.Ser2220Tyr
XM_006718839.2:c.4151C>A	XP_006718902.2:p.Ser1384Tyr
XM_011542829.1:c.6767C>A	XP_011541131.1:p.Ser2256Tyr
XM_011542830.1:c.6764C>A	XP_011541132.1:p.Ser2255Tyr
XM_011542831.1:c.6758C>A	XP_011541133.1:p.Ser2253Tyr
XM_011542832.1:c.4574C>A	XP_011541134.1:p.Ser1525Tyr
XM_011542833.1:c.4250C>A	XP_011541135.1:p.Ser1417Tyr
XM_006718839.3:c.4151C>A	XP_006718902.2:p.Ser1384Tyr
XM_011542829.2:c.6767C>A	XP_011541131.1:p.Ser2256Tyr
XM_011542830.2:c.6764C>A	XP_011541132.1:p.Ser2255Tyr
XM_011542831.2:c.6758C>A	XP_011541133.1:p.Ser2253Tyr
XM_011542833.2:c.4250C>A	XP_011541135.1:p.Ser1417Tyr
NM_001197104.2:c.6668C>A MANE Select	NP_001184033.1:p.Ser2223Tyr
NM_005933.4:c.6659C>A	NP_005924.2:p.Ser2220Tyr