Canonical Allele Identifier: CA130074
Gene: KMT2A HGNC NCBI

Linked Data

ClinVar Variation Id: 37075
ClinVar RCV Id: RCV000030725
dbSNP Id: rs398122881
MyVariant Identifiers: chr11:g.118360867dupT (hg19) chr11:g.118490152dupT (hg38)
PubMed: PMID:22795537
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118490152dup , CM000673.2:g.118490152dup GRCh38
NC_000011.9:g.118360867dup , CM000673.1:g.118360867dup GRCh37
NC_000011.8:g.117866077dup NCBI36
NG_027813.1:g.58663dup , LRG_613:g.58663dup

Transcript Alleles

HGVS Amino-acid change
ENST00000531904.7:c.4698dup ENSP00000432391.3:p.Lys1567Ter
ENST00000710560.1:c.4698dup ENSP00000518343.1:p.Lys1567Ter
ENST00000685498.1:c.375dup ENSP00000509293.1:p.Lys126Ter
ENST00000691053.1:c.4599dup ENSP00000509168.1:p.Lys1534Ter
ENST00000389506.10:c.4599dup ENSP00000374157.5:p.Lys1534Ter
ENST00000534358.8:c.4599dup MANE Select ENSP00000436786.2:p.Lys1534Ter
ENST00000649699.1:c.4485dup ENSP00000496927.1:p.Lys1496Ter
ENST00000389506.9:c.4599dup ENSP00000374157.5:p.Lys1534Ter
ENST00000392873.3:c.735dup ENSP00000376612.3:p.Lys246Ter
ENST00000534358.5:c.4599dup ENSP00000436786.1:p.Lys1534Ter
NM_001197104.1:c.4599dup , LRG_613t1:c.4599dup NP_001184033.1:p.Lys1534Ter
NM_005933.3:c.4599dup NP_005924.2:p.Lys1534Ter
XM_006718839.2:c.2082dup XP_006718902.2:p.Lys695Ter
XM_011542829.1:c.4698dup XP_011541131.1:p.Lys1567Ter
XM_011542830.1:c.4695dup XP_011541132.1:p.Lys1566Ter
XM_011542831.1:c.4698dup XP_011541133.1:p.Lys1567Ter
XM_011542832.1:c.2505dup XP_011541134.1:p.Lys836Ter
XM_011542833.1:c.2181dup XP_011541135.1:p.Lys728Ter
XM_006718839.3:c.2082dup XP_006718902.2:p.Lys695Ter
XM_011542829.2:c.4698dup XP_011541131.1:p.Lys1567Ter
XM_011542830.2:c.4695dup XP_011541132.1:p.Lys1566Ter
XM_011542831.2:c.4698dup XP_011541133.1:p.Lys1567Ter
XM_011542833.2:c.2181dup XP_011541135.1:p.Lys728Ter
NM_001197104.2:c.4599dup MANE Select NP_001184033.1:p.Lys1534Ter
NM_005933.4:c.4599dup NP_005924.2:p.Lys1534Ter
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