Canonical Allele Identifier: CA477091621
Gene: KMT2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.118361930T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118491215T>C , CM000673.2:g.118491215T>C GRCh38
NC_000011.9:g.118361930T>C , CM000673.1:g.118361930T>C GRCh37
NC_000011.8:g.117867140T>C NCBI36
NG_027813.1:g.59726T>C , LRG_613:g.59726T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000531904.7:c.4815T>C ENSP00000432391.3:p.Cys1605=
ENST00000710560.1:c.4815T>C ENSP00000518343.1:p.Cys1605=
ENST00000685498.1:c.492T>C ENSP00000509293.1:p.Cys164=
ENST00000691053.1:c.4716T>C ENSP00000509168.1:p.Cys1572=
ENST00000389506.10:c.4716T>C ENSP00000374157.5:p.Cys1572=
ENST00000534358.8:c.4716T>C MANE Select ENSP00000436786.2:p.Cys1572=
ENST00000649699.1:c.4602T>C ENSP00000496927.1:p.Cys1534=
ENST00000389506.9:c.4716T>C ENSP00000374157.5:p.Cys1572=
ENST00000392873.3:c.852T>C ENSP00000376612.3:p.Cys284=
ENST00000534358.5:c.4716T>C ENSP00000436786.1:p.Cys1572=
NM_001197104.1:c.4716T>C , LRG_613t1:c.4716T>C NP_001184033.1:p.Cys1572=
NM_005933.3:c.4716T>C NP_005924.2:p.Cys1572=
XM_006718839.2:c.2199T>C XP_006718902.2:p.Cys733=
XM_011542829.1:c.4815T>C XP_011541131.1:p.Cys1605=
XM_011542830.1:c.4812T>C XP_011541132.1:p.Cys1604=
XM_011542831.1:c.4815T>C XP_011541133.1:p.Cys1605=
XM_011542832.1:c.2622T>C XP_011541134.1:p.Cys874=
XM_011542833.1:c.2298T>C XP_011541135.1:p.Cys766=
XM_006718839.3:c.2199T>C XP_006718902.2:p.Cys733=
XM_011542829.2:c.4815T>C XP_011541131.1:p.Cys1605=
XM_011542830.2:c.4812T>C XP_011541132.1:p.Cys1604=
XM_011542831.2:c.4815T>C XP_011541133.1:p.Cys1605=
XM_011542833.2:c.2298T>C XP_011541135.1:p.Cys766=
NM_001197104.2:c.4716T>C MANE Select NP_001184033.1:p.Cys1572=
NM_005933.4:c.4716T>C NP_005924.2:p.Cys1572=