Canonical Allele Identifier: CA382831780

Gene: KMT2A

Linked Data

• MyVariant Identifiers: chr11:g.118359347T>A (hg19) ; chr11:g.118488632T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118488632T>A , CM000673.2:g.118488632T>A	GRCh38
NC_000011.9:g.118359347T>A , CM000673.1:g.118359347T>A	GRCh37
NC_000011.8:g.117864557T>A	NCBI36
NG_027813.1:g.57143T>A , LRG_613:g.57143T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.4450T>A	ENSP00000432391.3:p.Cys1484Ser
ENST00000710560.1:c.4450T>A	ENSP00000518343.1:p.Cys1484Ser
ENST00000420751.4:c.262T>A	ENSP00000510776.1:p.Cys88Ser
ENST00000685498.1:c.130T>A	ENSP00000509293.1:p.Cys44Ser
ENST00000691053.1:c.4351T>A	ENSP00000509168.1:p.Cys1451Ser
ENST00000389506.10:c.4351T>A	ENSP00000374157.5:p.Cys1451Ser
ENST00000534358.8:c.4351T>A MANE Select	ENSP00000436786.2:p.Cys1451Ser
ENST00000649699.1:c.4237T>A	ENSP00000496927.1:p.Cys1413Ser
ENST00000389506.9:c.4351T>A	ENSP00000374157.5:p.Cys1451Ser
ENST00000392873.3:c.487T>A	ENSP00000376612.3:p.Cys163Ser
ENST00000534358.5:c.4351T>A	ENSP00000436786.1:p.Cys1451Ser
NM_001197104.1:c.4351T>A , LRG_613t1:c.4351T>A	NP_001184033.1:p.Cys1451Ser
NM_005933.3:c.4351T>A	NP_005924.2:p.Cys1451Ser
XM_006718839.2:c.1834T>A	XP_006718902.2:p.Cys612Ser
XM_011542829.1:c.4450T>A	XP_011541131.1:p.Cys1484Ser
XM_011542830.1:c.4450T>A	XP_011541132.1:p.Cys1484Ser
XM_011542831.1:c.4450T>A	XP_011541133.1:p.Cys1484Ser
XM_011542832.1:c.2257T>A	XP_011541134.1:p.Cys753Ser
XM_011542833.1:c.1933T>A	XP_011541135.1:p.Cys645Ser
XM_006718839.3:c.1834T>A	XP_006718902.2:p.Cys612Ser
XM_011542829.2:c.4450T>A	XP_011541131.1:p.Cys1484Ser
XM_011542830.2:c.4450T>A	XP_011541132.1:p.Cys1484Ser
XM_011542831.2:c.4450T>A	XP_011541133.1:p.Cys1484Ser
XM_011542833.2:c.1933T>A	XP_011541135.1:p.Cys645Ser
NM_001197104.2:c.4351T>A MANE Select	NP_001184033.1:p.Cys1451Ser
NM_005933.4:c.4351T>A	NP_005924.2:p.Cys1451Ser