Canonical Allele Identifier: CA382834406
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118491262G>C , CM000673.2:g.118491262G>C GRCh38
NC_000011.9:g.118361977G>C , CM000673.1:g.118361977G>C GRCh37
NC_000011.8:g.117867187G>C NCBI36
NG_027813.1:g.59773G>C , LRG_613:g.59773G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.4862G>C ENSP00000432391.3:p.Cys1621Ser
ENST00000710560.1:c.4862G>C ENSP00000518343.1:p.Cys1621Ser
ENST00000685498.1:c.539G>C ENSP00000509293.1:p.Cys180Ser
ENST00000691053.1:c.4763G>C ENSP00000509168.1:p.Cys1588Ser
ENST00000389506.10:c.4763G>C ENSP00000374157.5:p.Cys1588Ser
ENST00000534358.8:c.4763G>C MANE Select ENSP00000436786.2:p.Cys1588Ser
ENST00000649699.1:c.4649G>C ENSP00000496927.1:p.Cys1550Ser
ENST00000389506.9:c.4763G>C ENSP00000374157.5:p.Cys1588Ser
ENST00000392873.3:c.899G>C ENSP00000376612.3:p.Cys300Ser
ENST00000534358.5:c.4763G>C ENSP00000436786.1:p.Cys1588Ser
NM_001197104.1:c.4763G>C , LRG_613t1:c.4763G>C NP_001184033.1:p.Cys1588Ser
NM_005933.3:c.4763G>C NP_005924.2:p.Cys1588Ser
XM_006718839.2:c.2246G>C XP_006718902.2:p.Cys749Ser
XM_011542829.1:c.4862G>C XP_011541131.1:p.Cys1621Ser
XM_011542830.1:c.4859G>C XP_011541132.1:p.Cys1620Ser
XM_011542831.1:c.4862G>C XP_011541133.1:p.Cys1621Ser
XM_011542832.1:c.2669G>C XP_011541134.1:p.Cys890Ser
XM_011542833.1:c.2345G>C XP_011541135.1:p.Cys782Ser
XM_006718839.3:c.2246G>C XP_006718902.2:p.Cys749Ser
XM_011542829.2:c.4862G>C XP_011541131.1:p.Cys1621Ser
XM_011542830.2:c.4859G>C XP_011541132.1:p.Cys1620Ser
XM_011542831.2:c.4862G>C XP_011541133.1:p.Cys1621Ser
XM_011542833.2:c.2345G>C XP_011541135.1:p.Cys782Ser
NM_001197104.2:c.4763G>C MANE Select NP_001184033.1:p.Cys1588Ser
NM_005933.4:c.4763G>C NP_005924.2:p.Cys1588Ser