Canonical Allele Identifier: CA382807790
Community Standard Title: NM_001197104.2(KMT2A):c.7914T>G (p.Tyr2638Ter)
Gene: KMT2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118503806T>G , CM000673.2:g.118503806T>G GRCh38
NC_000011.9:g.118374521T>G , CM000673.1:g.118374521T>G GRCh37
NC_000011.8:g.117879731T>G NCBI36
NG_027813.1:g.72317T>G , LRG_613:g.72317T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001197104.2:c.7914T>G MANE Select NP_001184033.1:p.Tyr2638Ter
ENST00000534358.8:c.7914T>G MANE Select ENSP00000436786.2:p.Tyr2638Ter
NM_001197104.1:c.7914T>G , LRG_613t1:c.7914T>G NP_001184033.1:p.Tyr2638Ter
NM_005933.3:c.7905T>G NP_005924.2:p.Tyr2635Ter
NM_005933.4:c.7905T>G NP_005924.2:p.Tyr2635Ter
ENST00000389506.10:c.7905T>G ENSP00000374157.5:p.Tyr2635Ter
ENST00000389506.9:c.7905T>G ENSP00000374157.5:p.Tyr2635Ter
ENST00000528278.2:n.7256T>G
ENST00000531904.7:c.8013T>G ENSP00000432391.3:p.Tyr2671Ter
ENST00000534358.5:c.7914T>G ENSP00000436786.1:p.Tyr2638Ter
ENST00000649699.1:c.7791T>G ENSP00000496927.1:p.Tyr2597Ter
ENST00000649878.2:c.1953T>G ENSP00000497891.2:p.Tyr651Ter
ENST00000685397.1:c.1953T>G ENSP00000509586.1:p.Tyr651Ter
ENST00000686370.1:c.1953T>G ENSP00000509179.1:p.Tyr651Ter
ENST00000689424.1:c.2211T>G ENSP00000509852.1:p.Tyr737Ter
ENST00000691053.1:c.7986T>G ENSP00000509168.1:p.Tyr2662Ter
ENST00000710560.1:c.8004T>G ENSP00000518343.1:p.Tyr2668Ter
XM_006718839.2:c.5397T>G XP_006718902.2:p.Tyr1799Ter
XM_006718839.3:c.5397T>G XP_006718902.2:p.Tyr1799Ter
XM_011542829.1:c.8013T>G XP_011541131.1:p.Tyr2671Ter
XM_011542829.2:c.8013T>G XP_011541131.1:p.Tyr2671Ter
XM_011542830.1:c.8010T>G XP_011541132.1:p.Tyr2670Ter
XM_011542830.2:c.8010T>G XP_011541132.1:p.Tyr2670Ter
XM_011542831.1:c.8004T>G XP_011541133.1:p.Tyr2668Ter
XM_011542831.2:c.8004T>G XP_011541133.1:p.Tyr2668Ter
XM_011542832.1:c.5820T>G XP_011541134.1:p.Tyr1940Ter
XM_011542833.1:c.5496T>G XP_011541135.1:p.Tyr1832Ter
XM_011542833.2:c.5496T>G XP_011541135.1:p.Tyr1832Ter