Canonical Allele Identifier: CA172386
Gene: KMT2A HGNC NCBI

Linked Data

ClinVar Variation Id: 158704
ClinVar RCV Id: RCV000146140
dbSNP Id: rs587783678
MyVariant Identifiers: chr11:g.118339515C>G (hg19) chr11:g.118468800C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118468800C>G , CM000673.2:g.118468800C>G GRCh38
NC_000011.9:g.118339515C>G , CM000673.1:g.118339515C>G GRCh37
NC_000011.8:g.117844725C>G NCBI36
NG_027813.1:g.37311C>G , LRG_613:g.37311C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000531904.7:c.557C>G ENSP00000432391.3:p.Ser186Ter
ENST00000710560.1:c.557C>G ENSP00000518343.1:p.Ser186Ter
ENST00000527869.7:c.557C>G ENSP00000432652.3:p.Ser186Ter
ENST00000533790.3:c.458C>G ENSP00000436700.3:p.Ser153Ter
ENST00000649690.2:c.458C>G ENSP00000497372.2:p.Ser153Ter
ENST00000691053.1:c.458C>G ENSP00000509168.1:p.Ser153Ter
ENST00000389506.10:c.458C>G ENSP00000374157.5:p.Ser153Ter
ENST00000533790.2:c.227C>G ENSP00000436700.2:p.Ser76Ter
ENST00000534358.8:c.458C>G MANE Select ENSP00000436786.2:p.Ser153Ter
ENST00000648029.1:n.39C>G
ENST00000648261.1:c.-773C>G ENSP00000498126.1:n.-773C>G
ENST00000648910.1:n.1250C>G
ENST00000649690.1:c.44C>G ENSP00000497372.1:p.Ser15Ter
ENST00000649699.1:c.458C>G ENSP00000496927.1:p.Ser153Ter
ENST00000389506.9:c.458C>G ENSP00000374157.5:p.Ser153Ter
ENST00000527869.6:c.308C>G ENSP00000432652.2:p.Ser103Ter
ENST00000531904.6:c.557C>G ENSP00000432391.2:p.Ser186Ter
ENST00000533790.1:c.209C>G ENSP00000436700.1:p.Ser70Ter
ENST00000534358.5:c.458C>G ENSP00000436786.1:p.Ser153Ter
NM_001197104.1:c.458C>G , LRG_613t1:c.458C>G NP_001184033.1:p.Ser153Ter
NM_005933.3:c.458C>G NP_005924.2:p.Ser153Ter
XM_006718839.2:c.458C>G XP_006718902.2:p.Ser153Ter
XM_011542829.1:c.557C>G XP_011541131.1:p.Ser186Ter
XM_011542830.1:c.557C>G XP_011541132.1:p.Ser186Ter
XM_011542831.1:c.557C>G XP_011541133.1:p.Ser186Ter
XM_011542832.1:c.557C>G XP_011541134.1:p.Ser186Ter
XM_011542833.1:c.557C>G XP_011541135.1:p.Ser186Ter
XM_006718839.3:c.458C>G XP_006718902.2:p.Ser153Ter
XM_011542829.2:c.557C>G XP_011541131.1:p.Ser186Ter
XM_011542830.2:c.557C>G XP_011541132.1:p.Ser186Ter
XM_011542831.2:c.557C>G XP_011541133.1:p.Ser186Ter
XM_011542833.2:c.557C>G XP_011541135.1:p.Ser186Ter
NM_001197104.2:c.458C>G MANE Select NP_001184033.1:p.Ser153Ter
NM_005933.4:c.458C>G NP_005924.2:p.Ser153Ter
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