Canonical Allele Identifier: CA16605859
Gene: KMT2A HGNC NCBI

Linked Data

ClinVar Variation Id: 379700
ClinVar RCV Id: RCV000442703
dbSNP Id: rs1057520696

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118504462T>A , CM000673.2:g.118504462T>A GRCh38
NC_000011.9:g.118375177T>A , CM000673.1:g.118375177T>A GRCh37
NC_000011.8:g.117880387T>A NCBI36
NG_027813.1:g.72973T>A , LRG_613:g.72973T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000531904.7:c.8669T>A ENSP00000432391.3:p.Leu2890Gln
ENST00000710560.1:c.8660T>A ENSP00000518343.1:p.Leu2887Gln
ENST00000649878.2:c.2609T>A ENSP00000497891.2:p.Leu870Gln
ENST00000685397.1:c.2609T>A ENSP00000509586.1:p.Leu870Gln
ENST00000686370.1:c.2609T>A ENSP00000509179.1:p.Leu870Gln
ENST00000689424.1:c.2867T>A ENSP00000509852.1:p.Leu956Gln
ENST00000691053.1:c.8642T>A ENSP00000509168.1:p.Leu2881Gln
ENST00000389506.10:c.8561T>A ENSP00000374157.5:p.Leu2854Gln
ENST00000528278.2:n.7912T>A
ENST00000534358.8:c.8570T>A MANE Select ENSP00000436786.2:p.Leu2857Gln
ENST00000649699.1:c.8447T>A ENSP00000496927.1:p.Leu2816Gln
ENST00000389506.9:c.8561T>A ENSP00000374157.5:p.Leu2854Gln
ENST00000534358.5:c.8570T>A ENSP00000436786.1:p.Leu2857Gln
NM_001197104.1:c.8570T>A , LRG_613t1:c.8570T>A NP_001184033.1:p.Leu2857Gln
NM_005933.3:c.8561T>A NP_005924.2:p.Leu2854Gln
XM_006718839.2:c.6053T>A XP_006718902.2:p.Leu2018Gln
XM_011542829.1:c.8669T>A XP_011541131.1:p.Leu2890Gln
XM_011542830.1:c.8666T>A XP_011541132.1:p.Leu2889Gln
XM_011542831.1:c.8660T>A XP_011541133.1:p.Leu2887Gln
XM_011542832.1:c.6476T>A XP_011541134.1:p.Leu2159Gln
XM_011542833.1:c.6152T>A XP_011541135.1:p.Leu2051Gln
XM_006718839.3:c.6053T>A XP_006718902.2:p.Leu2018Gln
XM_011542829.2:c.8669T>A XP_011541131.1:p.Leu2890Gln
XM_011542830.2:c.8666T>A XP_011541132.1:p.Leu2889Gln
XM_011542831.2:c.8660T>A XP_011541133.1:p.Leu2887Gln
XM_011542833.2:c.6152T>A XP_011541135.1:p.Leu2051Gln
NM_001197104.2:c.8570T>A MANE Select NP_001184033.1:p.Leu2857Gln
NM_005933.4:c.8561T>A NP_005924.2:p.Leu2854Gln