Canonical Allele Identifier: CA16619282
Gene: KMT2A HGNC NCBI

Linked Data

ClinVar Variation Id: 424207
ClinVar RCV Id: RCV000484940
dbSNP Id: rs1064796862

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118502656C>A , CM000673.2:g.118502656C>A GRCh38
NC_000011.9:g.118373371C>A , CM000673.1:g.118373371C>A GRCh37
NC_000011.8:g.117878581C>A NCBI36
NG_027813.1:g.71167C>A , LRG_613:g.71167C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000531904.7:c.6863C>A ENSP00000432391.3:p.Ser2288Ter
ENST00000710560.1:c.6854C>A ENSP00000518343.1:p.Ser2285Ter
ENST00000649878.2:c.803C>A ENSP00000497891.2:p.Ser268Ter
ENST00000685397.1:c.803C>A ENSP00000509586.1:p.Ser268Ter
ENST00000686370.1:c.803C>A ENSP00000509179.1:p.Ser268Ter
ENST00000689424.1:c.1061C>A ENSP00000509852.1:p.Ser354Ter
ENST00000691053.1:c.6836C>A ENSP00000509168.1:p.Ser2279Ter
ENST00000389506.10:c.6755C>A ENSP00000374157.5:p.Ser2252Ter
ENST00000528278.2:n.6106C>A
ENST00000534358.8:c.6764C>A MANE Select ENSP00000436786.2:p.Ser2255Ter
ENST00000649699.1:c.6641C>A ENSP00000496927.1:p.Ser2214Ter
ENST00000389506.9:c.6755C>A ENSP00000374157.5:p.Ser2252Ter
ENST00000528278.1:n.891C>A
ENST00000534358.5:c.6764C>A ENSP00000436786.1:p.Ser2255Ter
NM_001197104.1:c.6764C>A , LRG_613t1:c.6764C>A NP_001184033.1:p.Ser2255Ter
NM_005933.3:c.6755C>A NP_005924.2:p.Ser2252Ter
XM_006718839.2:c.4247C>A XP_006718902.2:p.Ser1416Ter
XM_011542829.1:c.6863C>A XP_011541131.1:p.Ser2288Ter
XM_011542830.1:c.6860C>A XP_011541132.1:p.Ser2287Ter
XM_011542831.1:c.6854C>A XP_011541133.1:p.Ser2285Ter
XM_011542832.1:c.4670C>A XP_011541134.1:p.Ser1557Ter
XM_011542833.1:c.4346C>A XP_011541135.1:p.Ser1449Ter
XM_006718839.3:c.4247C>A XP_006718902.2:p.Ser1416Ter
XM_011542829.2:c.6863C>A XP_011541131.1:p.Ser2288Ter
XM_011542830.2:c.6860C>A XP_011541132.1:p.Ser2287Ter
XM_011542831.2:c.6854C>A XP_011541133.1:p.Ser2285Ter
XM_011542833.2:c.4346C>A XP_011541135.1:p.Ser1449Ter
NM_001197104.2:c.6764C>A MANE Select NP_001184033.1:p.Ser2255Ter
NM_005933.4:c.6755C>A NP_005924.2:p.Ser2252Ter