Canonical Allele Identifier: CA6304420

Gene: KMT2A

Linked Data

• ClinVar Variation Id: 2012279
• ClinVar RCV Id: RCV002839046
• dbSNP Id: rs782495804
• ExAC: 11:118374270 T / C
• gnomAD v2: 11-118374270-T-C
• gnomAD v4: 11-118503555-T-C
• COSMIC: COSM6199629 ; COSM6199630
• MyVariant Identifiers: chr11:g.118374270T>C (hg19) ; chr11:g.118503555T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503555T>C , CM000673.2:g.118503555T>C	GRCh38
NC_000011.9:g.118374270T>C , CM000673.1:g.118374270T>C	GRCh37
NC_000011.8:g.117879480T>C	NCBI36
NG_027813.1:g.72066T>C , LRG_613:g.72066T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000531904.7:c.7762T>C	ENSP00000432391.3:p.Ser2588Pro
ENST00000710560.1:c.7753T>C	ENSP00000518343.1:p.Ser2585Pro
ENST00000649878.2:c.1702T>C	ENSP00000497891.2:p.Ser568Pro
ENST00000685397.1:c.1702T>C	ENSP00000509586.1:p.Ser568Pro
ENST00000686370.1:c.1702T>C	ENSP00000509179.1:p.Ser568Pro
ENST00000689424.1:c.1960T>C	ENSP00000509852.1:p.Ser654Pro
ENST00000691053.1:c.7735T>C	ENSP00000509168.1:p.Ser2579Pro
ENST00000389506.10:c.7654T>C	ENSP00000374157.5:p.Ser2552Pro
ENST00000528278.2:n.7005T>C
ENST00000534358.8:c.7663T>C MANE Select	ENSP00000436786.2:p.Ser2555Pro
ENST00000649699.1:c.7540T>C	ENSP00000496927.1:p.Ser2514Pro
ENST00000389506.9:c.7654T>C	ENSP00000374157.5:p.Ser2552Pro
ENST00000528278.1:n.1790T>C
ENST00000534358.5:c.7663T>C	ENSP00000436786.1:p.Ser2555Pro
NM_001197104.1:c.7663T>C , LRG_613t1:c.7663T>C	NP_001184033.1:p.Ser2555Pro
NM_005933.3:c.7654T>C	NP_005924.2:p.Ser2552Pro
XM_006718839.2:c.5146T>C	XP_006718902.2:p.Ser1716Pro
XM_011542829.1:c.7762T>C	XP_011541131.1:p.Ser2588Pro
XM_011542830.1:c.7759T>C	XP_011541132.1:p.Ser2587Pro
XM_011542831.1:c.7753T>C	XP_011541133.1:p.Ser2585Pro
XM_011542832.1:c.5569T>C	XP_011541134.1:p.Ser1857Pro
XM_011542833.1:c.5245T>C	XP_011541135.1:p.Ser1749Pro
XM_006718839.3:c.5146T>C	XP_006718902.2:p.Ser1716Pro
XM_011542829.2:c.7762T>C	XP_011541131.1:p.Ser2588Pro
XM_011542830.2:c.7759T>C	XP_011541132.1:p.Ser2587Pro
XM_011542831.2:c.7753T>C	XP_011541133.1:p.Ser2585Pro
XM_011542833.2:c.5245T>C	XP_011541135.1:p.Ser1749Pro
NM_001197104.2:c.7663T>C MANE Select	NP_001184033.1:p.Ser2555Pro
NM_005933.4:c.7654T>C	NP_005924.2:p.Ser2552Pro