Canonical Allele Identifier: CA382831726
Gene: KMT2A HGNC NCBI

Linked Data

ClinVar Variation Id: 426928
ClinVar RCV Id: RCV000489772 RCV001376037
dbSNP Id: rs1085307857
MyVariant Identifiers: chr11:g.118359339G>A (hg19) chr11:g.118488624G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118488624G>A , CM000673.2:g.118488624G>A GRCh38
NC_000011.9:g.118359339G>A , CM000673.1:g.118359339G>A GRCh37
NC_000011.8:g.117864549G>A NCBI36
NG_027813.1:g.57135G>A , LRG_613:g.57135G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000531904.7:c.4442G>A ENSP00000432391.3:p.Cys1481Tyr
ENST00000710560.1:c.4442G>A ENSP00000518343.1:p.Cys1481Tyr
ENST00000420751.4:c.254G>A ENSP00000510776.1:p.Cys85Tyr
ENST00000685498.1:c.122G>A ENSP00000509293.1:p.Cys41Tyr
ENST00000691053.1:c.4343G>A ENSP00000509168.1:p.Cys1448Tyr
ENST00000389506.10:c.4343G>A ENSP00000374157.5:p.Cys1448Tyr
ENST00000534358.8:c.4343G>A MANE Select ENSP00000436786.2:p.Cys1448Tyr
ENST00000649699.1:c.4229G>A ENSP00000496927.1:p.Cys1410Tyr
ENST00000389506.9:c.4343G>A ENSP00000374157.5:p.Cys1448Tyr
ENST00000392873.3:c.479G>A ENSP00000376612.3:p.Cys160Tyr
ENST00000534358.5:c.4343G>A ENSP00000436786.1:p.Cys1448Tyr
NM_001197104.1:c.4343G>A , LRG_613t1:c.4343G>A NP_001184033.1:p.Cys1448Tyr
NM_005933.3:c.4343G>A NP_005924.2:p.Cys1448Tyr
XM_006718839.2:c.1826G>A XP_006718902.2:p.Cys609Tyr
XM_011542829.1:c.4442G>A XP_011541131.1:p.Cys1481Tyr
XM_011542830.1:c.4442G>A XP_011541132.1:p.Cys1481Tyr
XM_011542831.1:c.4442G>A XP_011541133.1:p.Cys1481Tyr
XM_011542832.1:c.2249G>A XP_011541134.1:p.Cys750Tyr
XM_011542833.1:c.1925G>A XP_011541135.1:p.Cys642Tyr
XM_006718839.3:c.1826G>A XP_006718902.2:p.Cys609Tyr
XM_011542829.2:c.4442G>A XP_011541131.1:p.Cys1481Tyr
XM_011542830.2:c.4442G>A XP_011541132.1:p.Cys1481Tyr
XM_011542831.2:c.4442G>A XP_011541133.1:p.Cys1481Tyr
XM_011542833.2:c.1925G>A XP_011541135.1:p.Cys642Tyr
NM_001197104.2:c.4343G>A MANE Select NP_001184033.1:p.Cys1448Tyr
NM_005933.4:c.4343G>A NP_005924.2:p.Cys1448Tyr
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