Canonical Allele Identifier: CA382805167
Gene: KMT2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2475931
ClinVar RCV Id: RCV003193357
dbSNP Id: rs1278034627

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503229G>A , CM000673.2:g.118503229G>A GRCh38
NC_000011.9:g.118373944G>A , CM000673.1:g.118373944G>A GRCh37
NC_000011.8:g.117879154G>A NCBI36
NG_027813.1:g.71740G>A , LRG_613:g.71740G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.7436G>A ENSP00000432391.3:p.Ser2479Asn
ENST00000710560.1:c.7427G>A ENSP00000518343.1:p.Ser2476Asn
ENST00000649878.2:c.1376G>A ENSP00000497891.2:p.Ser459Asn
ENST00000685397.1:c.1376G>A ENSP00000509586.1:p.Ser459Asn
ENST00000686370.1:c.1376G>A ENSP00000509179.1:p.Ser459Asn
ENST00000689424.1:c.1634G>A ENSP00000509852.1:p.Ser545Asn
ENST00000691053.1:c.7409G>A ENSP00000509168.1:p.Ser2470Asn
ENST00000389506.10:c.7328G>A ENSP00000374157.5:p.Ser2443Asn
ENST00000528278.2:n.6679G>A
ENST00000534358.8:c.7337G>A MANE Select ENSP00000436786.2:p.Ser2446Asn
ENST00000649699.1:c.7214G>A ENSP00000496927.1:p.Ser2405Asn
ENST00000389506.9:c.7328G>A ENSP00000374157.5:p.Ser2443Asn
ENST00000528278.1:n.1464G>A
ENST00000534358.5:c.7337G>A ENSP00000436786.1:p.Ser2446Asn
NM_001197104.1:c.7337G>A , LRG_613t1:c.7337G>A NP_001184033.1:p.Ser2446Asn
NM_005933.3:c.7328G>A NP_005924.2:p.Ser2443Asn
XM_006718839.2:c.4820G>A XP_006718902.2:p.Ser1607Asn
XM_011542829.1:c.7436G>A XP_011541131.1:p.Ser2479Asn
XM_011542830.1:c.7433G>A XP_011541132.1:p.Ser2478Asn
XM_011542831.1:c.7427G>A XP_011541133.1:p.Ser2476Asn
XM_011542832.1:c.5243G>A XP_011541134.1:p.Ser1748Asn
XM_011542833.1:c.4919G>A XP_011541135.1:p.Ser1640Asn
XM_006718839.3:c.4820G>A XP_006718902.2:p.Ser1607Asn
XM_011542829.2:c.7436G>A XP_011541131.1:p.Ser2479Asn
XM_011542830.2:c.7433G>A XP_011541132.1:p.Ser2478Asn
XM_011542831.2:c.7427G>A XP_011541133.1:p.Ser2476Asn
XM_011542833.2:c.4919G>A XP_011541135.1:p.Ser1640Asn
NM_001197104.2:c.7337G>A MANE Select NP_001184033.1:p.Ser2446Asn
NM_005933.4:c.7328G>A NP_005924.2:p.Ser2443Asn