Canonical Allele Identifier: CA382834280

Gene: KMT2A

Linked Data

• MyVariant Identifiers: chr11:g.118361930T>A (hg19) ; chr11:g.118491215T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118491215T>A , CM000673.2:g.118491215T>A	GRCh38
NC_000011.9:g.118361930T>A , CM000673.1:g.118361930T>A	GRCh37
NC_000011.8:g.117867140T>A	NCBI36
NG_027813.1:g.59726T>A , LRG_613:g.59726T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.4815T>A	ENSP00000432391.3:p.Cys1605Ter
ENST00000710560.1:c.4815T>A	ENSP00000518343.1:p.Cys1605Ter
ENST00000685498.1:c.492T>A	ENSP00000509293.1:p.Cys164Ter
ENST00000691053.1:c.4716T>A	ENSP00000509168.1:p.Cys1572Ter
ENST00000389506.10:c.4716T>A	ENSP00000374157.5:p.Cys1572Ter
ENST00000534358.8:c.4716T>A MANE Select	ENSP00000436786.2:p.Cys1572Ter
ENST00000649699.1:c.4602T>A	ENSP00000496927.1:p.Cys1534Ter
ENST00000389506.9:c.4716T>A	ENSP00000374157.5:p.Cys1572Ter
ENST00000392873.3:c.852T>A	ENSP00000376612.3:p.Cys284Ter
ENST00000534358.5:c.4716T>A	ENSP00000436786.1:p.Cys1572Ter
NM_001197104.1:c.4716T>A , LRG_613t1:c.4716T>A	NP_001184033.1:p.Cys1572Ter
NM_005933.3:c.4716T>A	NP_005924.2:p.Cys1572Ter
XM_006718839.2:c.2199T>A	XP_006718902.2:p.Cys733Ter
XM_011542829.1:c.4815T>A	XP_011541131.1:p.Cys1605Ter
XM_011542830.1:c.4812T>A	XP_011541132.1:p.Cys1604Ter
XM_011542831.1:c.4815T>A	XP_011541133.1:p.Cys1605Ter
XM_011542832.1:c.2622T>A	XP_011541134.1:p.Cys874Ter
XM_011542833.1:c.2298T>A	XP_011541135.1:p.Cys766Ter
XM_006718839.3:c.2199T>A	XP_006718902.2:p.Cys733Ter
XM_011542829.2:c.4815T>A	XP_011541131.1:p.Cys1605Ter
XM_011542830.2:c.4812T>A	XP_011541132.1:p.Cys1604Ter
XM_011542831.2:c.4815T>A	XP_011541133.1:p.Cys1605Ter
XM_011542833.2:c.2298T>A	XP_011541135.1:p.Cys766Ter
NM_001197104.2:c.4716T>A MANE Select	NP_001184033.1:p.Cys1572Ter
NM_005933.4:c.4716T>A	NP_005924.2:p.Cys1572Ter