Canonical Allele Identifier: CA382806045

Gene: KMT2A

Linked Data

• gnomAD v4: 11-118503465-G-C
• MyVariant Identifiers: chr11:g.118374180G>C (hg19) ; chr11:g.118503465G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503465G>C , CM000673.2:g.118503465G>C	GRCh38
NC_000011.9:g.118374180G>C , CM000673.1:g.118374180G>C	GRCh37
NC_000011.8:g.117879390G>C	NCBI36
NG_027813.1:g.71976G>C , LRG_613:g.71976G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000531904.7:c.7672G>C	ENSP00000432391.3:p.Val2558Leu
ENST00000710560.1:c.7663G>C	ENSP00000518343.1:p.Val2555Leu
ENST00000649878.2:c.1612G>C	ENSP00000497891.2:p.Val538Leu
ENST00000685397.1:c.1612G>C	ENSP00000509586.1:p.Val538Leu
ENST00000686370.1:c.1612G>C	ENSP00000509179.1:p.Val538Leu
ENST00000689424.1:c.1870G>C	ENSP00000509852.1:p.Val624Leu
ENST00000691053.1:c.7645G>C	ENSP00000509168.1:p.Val2549Leu
ENST00000389506.10:c.7564G>C	ENSP00000374157.5:p.Val2522Leu
ENST00000528278.2:n.6915G>C
ENST00000534358.8:c.7573G>C MANE Select	ENSP00000436786.2:p.Val2525Leu
ENST00000649699.1:c.7450G>C	ENSP00000496927.1:p.Val2484Leu
ENST00000389506.9:c.7564G>C	ENSP00000374157.5:p.Val2522Leu
ENST00000528278.1:n.1700G>C
ENST00000534358.5:c.7573G>C	ENSP00000436786.1:p.Val2525Leu
NM_001197104.1:c.7573G>C , LRG_613t1:c.7573G>C	NP_001184033.1:p.Val2525Leu
NM_005933.3:c.7564G>C	NP_005924.2:p.Val2522Leu
XM_006718839.2:c.5056G>C	XP_006718902.2:p.Val1686Leu
XM_011542829.1:c.7672G>C	XP_011541131.1:p.Val2558Leu
XM_011542830.1:c.7669G>C	XP_011541132.1:p.Val2557Leu
XM_011542831.1:c.7663G>C	XP_011541133.1:p.Val2555Leu
XM_011542832.1:c.5479G>C	XP_011541134.1:p.Val1827Leu
XM_011542833.1:c.5155G>C	XP_011541135.1:p.Val1719Leu
XM_006718839.3:c.5056G>C	XP_006718902.2:p.Val1686Leu
XM_011542829.2:c.7672G>C	XP_011541131.1:p.Val2558Leu
XM_011542830.2:c.7669G>C	XP_011541132.1:p.Val2557Leu
XM_011542831.2:c.7663G>C	XP_011541133.1:p.Val2555Leu
XM_011542833.2:c.5155G>C	XP_011541135.1:p.Val1719Leu
NM_001197104.2:c.7573G>C MANE Select	NP_001184033.1:p.Val2525Leu
NM_005933.4:c.7564G>C	NP_005924.2:p.Val2522Leu