Canonical Allele Identifier: CA382826515
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118480228G>C , CM000673.2:g.118480228G>C GRCh38
NC_000011.9:g.118350943G>C , CM000673.1:g.118350943G>C GRCh37
NC_000011.8:g.117856153G>C NCBI36
NG_027813.1:g.48739G>C , LRG_613:g.48739G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.3723G>C ENSP00000432391.3:p.Lys1241Asn
ENST00000710560.1:c.3723G>C ENSP00000518343.1:p.Lys1241Asn
ENST00000527869.7:c.1206G>C ENSP00000432652.3:p.Lys402Asn
ENST00000533790.3:c.1107G>C ENSP00000436700.3:p.Lys369Asn
ENST00000649690.2:c.1431G>C ENSP00000497372.2:p.Lys477Asn
ENST00000685719.1:c.605G>C
ENST00000691053.1:c.3624G>C ENSP00000509168.1:p.Lys1208Asn
ENST00000389506.10:c.3624G>C ENSP00000374157.5:p.Lys1208Asn
ENST00000533790.2:c.876G>C ENSP00000436700.2:p.Lys292Asn
ENST00000534358.8:c.3624G>C MANE Select ENSP00000436786.2:p.Lys1208Asn
ENST00000648261.1:c.2394G>C ENSP00000498126.1:p.Lys798Asn
ENST00000649699.1:c.3624G>C ENSP00000496927.1:p.Lys1208Asn
ENST00000389506.9:c.3624G>C ENSP00000374157.5:p.Lys1208Asn
ENST00000531904.6:c.3723G>C ENSP00000432391.2:p.Lys1241Asn
ENST00000534358.5:c.3624G>C ENSP00000436786.1:p.Lys1208Asn
NM_001197104.1:c.3624G>C , LRG_613t1:c.3624G>C NP_001184033.1:p.Lys1208Asn
NM_005933.3:c.3624G>C NP_005924.2:p.Lys1208Asn
XM_006718839.2:c.1107G>C XP_006718902.2:p.Lys369Asn
XM_011542829.1:c.3723G>C XP_011541131.1:p.Lys1241Asn
XM_011542830.1:c.3723G>C XP_011541132.1:p.Lys1241Asn
XM_011542831.1:c.3723G>C XP_011541133.1:p.Lys1241Asn
XM_011542832.1:c.1530G>C XP_011541134.1:p.Lys510Asn
XM_011542833.1:c.1206G>C XP_011541135.1:p.Lys402Asn
XM_006718839.3:c.1107G>C XP_006718902.2:p.Lys369Asn
XM_011542829.2:c.3723G>C XP_011541131.1:p.Lys1241Asn
XM_011542830.2:c.3723G>C XP_011541132.1:p.Lys1241Asn
XM_011542831.2:c.3723G>C XP_011541133.1:p.Lys1241Asn
XM_011542833.2:c.1206G>C XP_011541135.1:p.Lys402Asn
NM_001197104.2:c.3624G>C MANE Select NP_001184033.1:p.Lys1208Asn
NM_005933.4:c.3624G>C NP_005924.2:p.Lys1208Asn