Canonical Allele Identifier: CA382804814
Gene: KMT2A HGNC NCBI

Linked Data

dbSNP Id: rs1343434453

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503128C>G , CM000673.2:g.118503128C>G GRCh38
NC_000011.9:g.118373843C>G , CM000673.1:g.118373843C>G GRCh37
NC_000011.8:g.117879053C>G NCBI36
NG_027813.1:g.71639C>G , LRG_613:g.71639C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.7335C>G ENSP00000432391.3:p.Asn2445Lys
ENST00000710560.1:c.7326C>G ENSP00000518343.1:p.Asn2442Lys
ENST00000649878.2:c.1275C>G ENSP00000497891.2:p.Asn425Lys
ENST00000685397.1:c.1275C>G ENSP00000509586.1:p.Asn425Lys
ENST00000686370.1:c.1275C>G ENSP00000509179.1:p.Asn425Lys
ENST00000689424.1:c.1533C>G ENSP00000509852.1:p.Asn511Lys
ENST00000691053.1:c.7308C>G ENSP00000509168.1:p.Asn2436Lys
ENST00000389506.10:c.7227C>G ENSP00000374157.5:p.Asn2409Lys
ENST00000528278.2:n.6578C>G
ENST00000534358.8:c.7236C>G MANE Select ENSP00000436786.2:p.Asn2412Lys
ENST00000649699.1:c.7113C>G ENSP00000496927.1:p.Asn2371Lys
ENST00000389506.9:c.7227C>G ENSP00000374157.5:p.Asn2409Lys
ENST00000528278.1:n.1363C>G
ENST00000534358.5:c.7236C>G ENSP00000436786.1:p.Asn2412Lys
NM_001197104.1:c.7236C>G , LRG_613t1:c.7236C>G NP_001184033.1:p.Asn2412Lys
NM_005933.3:c.7227C>G NP_005924.2:p.Asn2409Lys
XM_006718839.2:c.4719C>G XP_006718902.2:p.Asn1573Lys
XM_011542829.1:c.7335C>G XP_011541131.1:p.Asn2445Lys
XM_011542830.1:c.7332C>G XP_011541132.1:p.Asn2444Lys
XM_011542831.1:c.7326C>G XP_011541133.1:p.Asn2442Lys
XM_011542832.1:c.5142C>G XP_011541134.1:p.Asn1714Lys
XM_011542833.1:c.4818C>G XP_011541135.1:p.Asn1606Lys
XM_006718839.3:c.4719C>G XP_006718902.2:p.Asn1573Lys
XM_011542829.2:c.7335C>G XP_011541131.1:p.Asn2445Lys
XM_011542830.2:c.7332C>G XP_011541132.1:p.Asn2444Lys
XM_011542831.2:c.7326C>G XP_011541133.1:p.Asn2442Lys
XM_011542833.2:c.4818C>G XP_011541135.1:p.Asn1606Lys
NM_001197104.2:c.7236C>G MANE Select NP_001184033.1:p.Asn2412Lys
NM_005933.4:c.7227C>G NP_005924.2:p.Asn2409Lys