Canonical Allele Identifier: CA382805159

Gene: KMT2A

Linked Data

• dbSNP Id: rs2134391303
• gnomAD v4: 11-118503226-C-A
• MyVariant Identifiers: chr11:g.118373941C>A (hg19) ; chr11:g.118503226C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503226C>A , CM000673.2:g.118503226C>A	GRCh38
NC_000011.9:g.118373941C>A , CM000673.1:g.118373941C>A	GRCh37
NC_000011.8:g.117879151C>A	NCBI36
NG_027813.1:g.71737C>A , LRG_613:g.71737C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.7433C>A	ENSP00000432391.3:p.Ser2478Tyr
ENST00000710560.1:c.7424C>A	ENSP00000518343.1:p.Ser2475Tyr
ENST00000649878.2:c.1373C>A	ENSP00000497891.2:p.Ser458Tyr
ENST00000685397.1:c.1373C>A	ENSP00000509586.1:p.Ser458Tyr
ENST00000686370.1:c.1373C>A	ENSP00000509179.1:p.Ser458Tyr
ENST00000689424.1:c.1631C>A	ENSP00000509852.1:p.Ser544Tyr
ENST00000691053.1:c.7406C>A	ENSP00000509168.1:p.Ser2469Tyr
ENST00000389506.10:c.7325C>A	ENSP00000374157.5:p.Ser2442Tyr
ENST00000528278.2:n.6676C>A
ENST00000534358.8:c.7334C>A MANE Select	ENSP00000436786.2:p.Ser2445Tyr
ENST00000649699.1:c.7211C>A	ENSP00000496927.1:p.Ser2404Tyr
ENST00000389506.9:c.7325C>A	ENSP00000374157.5:p.Ser2442Tyr
ENST00000528278.1:n.1461C>A
ENST00000534358.5:c.7334C>A	ENSP00000436786.1:p.Ser2445Tyr
NM_001197104.1:c.7334C>A , LRG_613t1:c.7334C>A	NP_001184033.1:p.Ser2445Tyr
NM_005933.3:c.7325C>A	NP_005924.2:p.Ser2442Tyr
XM_006718839.2:c.4817C>A	XP_006718902.2:p.Ser1606Tyr
XM_011542829.1:c.7433C>A	XP_011541131.1:p.Ser2478Tyr
XM_011542830.1:c.7430C>A	XP_011541132.1:p.Ser2477Tyr
XM_011542831.1:c.7424C>A	XP_011541133.1:p.Ser2475Tyr
XM_011542832.1:c.5240C>A	XP_011541134.1:p.Ser1747Tyr
XM_011542833.1:c.4916C>A	XP_011541135.1:p.Ser1639Tyr
XM_006718839.3:c.4817C>A	XP_006718902.2:p.Ser1606Tyr
XM_011542829.2:c.7433C>A	XP_011541131.1:p.Ser2478Tyr
XM_011542830.2:c.7430C>A	XP_011541132.1:p.Ser2477Tyr
XM_011542831.2:c.7424C>A	XP_011541133.1:p.Ser2475Tyr
XM_011542833.2:c.4916C>A	XP_011541135.1:p.Ser1639Tyr
NM_001197104.2:c.7334C>A MANE Select	NP_001184033.1:p.Ser2445Tyr
NM_005933.4:c.7325C>A	NP_005924.2:p.Ser2442Tyr