Canonical Allele Identifier: CA229526839

Gene: KMT2A

Linked Data

• ClinVar Variation Id: 1031920
• ClinVar RCV Id: RCV001333871 ; RCV002546659
• dbSNP Id: rs782475453
• gnomAD v3: 11-118503343-A-G
• gnomAD v4: 11-118503343-A-G
• MyVariant Identifiers: chr11:g.118374058A>G (hg19) ; chr11:g.118503343A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503343A>G , CM000673.2:g.118503343A>G	GRCh38
NC_000011.9:g.118374058A>G , CM000673.1:g.118374058A>G	GRCh37
NC_000011.8:g.117879268A>G	NCBI36
NG_027813.1:g.71854A>G , LRG_613:g.71854A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.7550A>G	ENSP00000432391.3:p.Asn2517Ser
ENST00000710560.1:c.7541A>G	ENSP00000518343.1:p.Asn2514Ser
ENST00000649878.2:c.1490A>G	ENSP00000497891.2:p.Asn497Ser
ENST00000685397.1:c.1490A>G	ENSP00000509586.1:p.Asn497Ser
ENST00000686370.1:c.1490A>G	ENSP00000509179.1:p.Asn497Ser
ENST00000689424.1:c.1748A>G	ENSP00000509852.1:p.Asn583Ser
ENST00000691053.1:c.7523A>G	ENSP00000509168.1:p.Asn2508Ser
ENST00000389506.10:c.7442A>G	ENSP00000374157.5:p.Asn2481Ser
ENST00000528278.2:n.6793A>G
ENST00000534358.8:c.7451A>G MANE Select	ENSP00000436786.2:p.Asn2484Ser
ENST00000649699.1:c.7328A>G	ENSP00000496927.1:p.Asn2443Ser
ENST00000389506.9:c.7442A>G	ENSP00000374157.5:p.Asn2481Ser
ENST00000528278.1:n.1578A>G
ENST00000534358.5:c.7451A>G	ENSP00000436786.1:p.Asn2484Ser
NM_001197104.1:c.7451A>G , LRG_613t1:c.7451A>G	NP_001184033.1:p.Asn2484Ser
NM_005933.3:c.7442A>G	NP_005924.2:p.Asn2481Ser
XM_006718839.2:c.4934A>G	XP_006718902.2:p.Asn1645Ser
XM_011542829.1:c.7550A>G	XP_011541131.1:p.Asn2517Ser
XM_011542830.1:c.7547A>G	XP_011541132.1:p.Asn2516Ser
XM_011542831.1:c.7541A>G	XP_011541133.1:p.Asn2514Ser
XM_011542832.1:c.5357A>G	XP_011541134.1:p.Asn1786Ser
XM_011542833.1:c.5033A>G	XP_011541135.1:p.Asn1678Ser
XM_006718839.3:c.4934A>G	XP_006718902.2:p.Asn1645Ser
XM_011542829.2:c.7550A>G	XP_011541131.1:p.Asn2517Ser
XM_011542830.2:c.7547A>G	XP_011541132.1:p.Asn2516Ser
XM_011542831.2:c.7541A>G	XP_011541133.1:p.Asn2514Ser
XM_011542833.2:c.5033A>G	XP_011541135.1:p.Asn1678Ser
NM_001197104.2:c.7451A>G MANE Select	NP_001184033.1:p.Asn2484Ser
NM_005933.4:c.7442A>G	NP_005924.2:p.Asn2481Ser