Canonical Allele Identifier: CA382805623

Gene: KMT2A

Linked Data

• ClinVar Variation Id: 2800652
• ClinVar RCV Id: RCV003673641
• dbSNP Id: rs1555046586
• gnomAD v2: 11-118374057-A-C
• gnomAD v4: 11-118503342-A-C
• MyVariant Identifiers: chr11:g.118374057A>C (hg19) ; chr11:g.118503342A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503342A>C , CM000673.2:g.118503342A>C	GRCh38
NC_000011.9:g.118374057A>C , CM000673.1:g.118374057A>C	GRCh37
NC_000011.8:g.117879267A>C	NCBI36
NG_027813.1:g.71853A>C , LRG_613:g.71853A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.7549A>C	ENSP00000432391.3:p.Asn2517His
ENST00000710560.1:c.7540A>C	ENSP00000518343.1:p.Asn2514His
ENST00000649878.2:c.1489A>C	ENSP00000497891.2:p.Asn497His
ENST00000685397.1:c.1489A>C	ENSP00000509586.1:p.Asn497His
ENST00000686370.1:c.1489A>C	ENSP00000509179.1:p.Asn497His
ENST00000689424.1:c.1747A>C	ENSP00000509852.1:p.Asn583His
ENST00000691053.1:c.7522A>C	ENSP00000509168.1:p.Asn2508His
ENST00000389506.10:c.7441A>C	ENSP00000374157.5:p.Asn2481His
ENST00000528278.2:n.6792A>C
ENST00000534358.8:c.7450A>C MANE Select	ENSP00000436786.2:p.Asn2484His
ENST00000649699.1:c.7327A>C	ENSP00000496927.1:p.Asn2443His
ENST00000389506.9:c.7441A>C	ENSP00000374157.5:p.Asn2481His
ENST00000528278.1:n.1577A>C
ENST00000534358.5:c.7450A>C	ENSP00000436786.1:p.Asn2484His
NM_001197104.1:c.7450A>C , LRG_613t1:c.7450A>C	NP_001184033.1:p.Asn2484His
NM_005933.3:c.7441A>C	NP_005924.2:p.Asn2481His
XM_006718839.2:c.4933A>C	XP_006718902.2:p.Asn1645His
XM_011542829.1:c.7549A>C	XP_011541131.1:p.Asn2517His
XM_011542830.1:c.7546A>C	XP_011541132.1:p.Asn2516His
XM_011542831.1:c.7540A>C	XP_011541133.1:p.Asn2514His
XM_011542832.1:c.5356A>C	XP_011541134.1:p.Asn1786His
XM_011542833.1:c.5032A>C	XP_011541135.1:p.Asn1678His
XM_006718839.3:c.4933A>C	XP_006718902.2:p.Asn1645His
XM_011542829.2:c.7549A>C	XP_011541131.1:p.Asn2517His
XM_011542830.2:c.7546A>C	XP_011541132.1:p.Asn2516His
XM_011542831.2:c.7540A>C	XP_011541133.1:p.Asn2514His
XM_011542833.2:c.5032A>C	XP_011541135.1:p.Asn1678His
NM_001197104.2:c.7450A>C MANE Select	NP_001184033.1:p.Asn2484His
NM_005933.4:c.7441A>C	NP_005924.2:p.Asn2481His