Canonical Allele Identifier: CA382806030

Gene: KMT2A

Linked Data

• MyVariant Identifiers: chr11:g.118374174G>C (hg19) ; chr11:g.118503459G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503459G>C , CM000673.2:g.118503459G>C	GRCh38
NC_000011.9:g.118374174G>C , CM000673.1:g.118374174G>C	GRCh37
NC_000011.8:g.117879384G>C	NCBI36
NG_027813.1:g.71970G>C , LRG_613:g.71970G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000531904.7:c.7666G>C	ENSP00000432391.3:p.Val2556Leu
ENST00000710560.1:c.7657G>C	ENSP00000518343.1:p.Val2553Leu
ENST00000649878.2:c.1606G>C	ENSP00000497891.2:p.Val536Leu
ENST00000685397.1:c.1606G>C	ENSP00000509586.1:p.Val536Leu
ENST00000686370.1:c.1606G>C	ENSP00000509179.1:p.Val536Leu
ENST00000689424.1:c.1864G>C	ENSP00000509852.1:p.Val622Leu
ENST00000691053.1:c.7639G>C	ENSP00000509168.1:p.Val2547Leu
ENST00000389506.10:c.7558G>C	ENSP00000374157.5:p.Val2520Leu
ENST00000528278.2:n.6909G>C
ENST00000534358.8:c.7567G>C MANE Select	ENSP00000436786.2:p.Val2523Leu
ENST00000649699.1:c.7444G>C	ENSP00000496927.1:p.Val2482Leu
ENST00000389506.9:c.7558G>C	ENSP00000374157.5:p.Val2520Leu
ENST00000528278.1:n.1694G>C
ENST00000534358.5:c.7567G>C	ENSP00000436786.1:p.Val2523Leu
NM_001197104.1:c.7567G>C , LRG_613t1:c.7567G>C	NP_001184033.1:p.Val2523Leu
NM_005933.3:c.7558G>C	NP_005924.2:p.Val2520Leu
XM_006718839.2:c.5050G>C	XP_006718902.2:p.Val1684Leu
XM_011542829.1:c.7666G>C	XP_011541131.1:p.Val2556Leu
XM_011542830.1:c.7663G>C	XP_011541132.1:p.Val2555Leu
XM_011542831.1:c.7657G>C	XP_011541133.1:p.Val2553Leu
XM_011542832.1:c.5473G>C	XP_011541134.1:p.Val1825Leu
XM_011542833.1:c.5149G>C	XP_011541135.1:p.Val1717Leu
XM_006718839.3:c.5050G>C	XP_006718902.2:p.Val1684Leu
XM_011542829.2:c.7666G>C	XP_011541131.1:p.Val2556Leu
XM_011542830.2:c.7663G>C	XP_011541132.1:p.Val2555Leu
XM_011542831.2:c.7657G>C	XP_011541133.1:p.Val2553Leu
XM_011542833.2:c.5149G>C	XP_011541135.1:p.Val1717Leu
NM_001197104.2:c.7567G>C MANE Select	NP_001184033.1:p.Val2523Leu
NM_005933.4:c.7558G>C	NP_005924.2:p.Val2520Leu