Canonical Allele Identifier: CA477359600
Gene: KMT2A HGNC NCBI

Linked Data

dbSNP Id: rs1208912083
MyVariant Identifiers: chr11:g.118374119A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503404A>C , CM000673.2:g.118503404A>C GRCh38
NC_000011.9:g.118374119A>C , CM000673.1:g.118374119A>C GRCh37
NC_000011.8:g.117879329A>C NCBI36
NG_027813.1:g.71915A>C , LRG_613:g.71915A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.7611A>C ENSP00000432391.3:p.Pro2537=
ENST00000710560.1:c.7602A>C ENSP00000518343.1:p.Pro2534=
ENST00000649878.2:c.1551A>C ENSP00000497891.2:p.Pro517=
ENST00000685397.1:c.1551A>C ENSP00000509586.1:p.Pro517=
ENST00000686370.1:c.1551A>C ENSP00000509179.1:p.Pro517=
ENST00000689424.1:c.1809A>C ENSP00000509852.1:p.Pro603=
ENST00000691053.1:c.7584A>C ENSP00000509168.1:p.Pro2528=
ENST00000389506.10:c.7503A>C ENSP00000374157.5:p.Pro2501=
ENST00000528278.2:n.6854A>C
ENST00000534358.8:c.7512A>C MANE Select ENSP00000436786.2:p.Pro2504=
ENST00000649699.1:c.7389A>C ENSP00000496927.1:p.Pro2463=
ENST00000389506.9:c.7503A>C ENSP00000374157.5:p.Pro2501=
ENST00000528278.1:n.1639A>C
ENST00000534358.5:c.7512A>C ENSP00000436786.1:p.Pro2504=
NM_001197104.1:c.7512A>C , LRG_613t1:c.7512A>C NP_001184033.1:p.Pro2504=
NM_005933.3:c.7503A>C NP_005924.2:p.Pro2501=
XM_006718839.2:c.4995A>C XP_006718902.2:p.Pro1665=
XM_011542829.1:c.7611A>C XP_011541131.1:p.Pro2537=
XM_011542830.1:c.7608A>C XP_011541132.1:p.Pro2536=
XM_011542831.1:c.7602A>C XP_011541133.1:p.Pro2534=
XM_011542832.1:c.5418A>C XP_011541134.1:p.Pro1806=
XM_011542833.1:c.5094A>C XP_011541135.1:p.Pro1698=
XM_006718839.3:c.4995A>C XP_006718902.2:p.Pro1665=
XM_011542829.2:c.7611A>C XP_011541131.1:p.Pro2537=
XM_011542830.2:c.7608A>C XP_011541132.1:p.Pro2536=
XM_011542831.2:c.7602A>C XP_011541133.1:p.Pro2534=
XM_011542833.2:c.5094A>C XP_011541135.1:p.Pro1698=
NM_001197104.2:c.7512A>C MANE Select NP_001184033.1:p.Pro2504=
NM_005933.4:c.7503A>C NP_005924.2:p.Pro2501=