Canonical Allele Identifier: CA382806033

Gene: KMT2A

Linked Data

• MyVariant Identifiers: chr11:g.118374175T>C (hg19) ; chr11:g.118503460T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503460T>C , CM000673.2:g.118503460T>C	GRCh38
NC_000011.9:g.118374175T>C , CM000673.1:g.118374175T>C	GRCh37
NC_000011.8:g.117879385T>C	NCBI36
NG_027813.1:g.71971T>C , LRG_613:g.71971T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000531904.7:c.7667T>C	ENSP00000432391.3:p.Val2556Ala
ENST00000710560.1:c.7658T>C	ENSP00000518343.1:p.Val2553Ala
ENST00000649878.2:c.1607T>C	ENSP00000497891.2:p.Val536Ala
ENST00000685397.1:c.1607T>C	ENSP00000509586.1:p.Val536Ala
ENST00000686370.1:c.1607T>C	ENSP00000509179.1:p.Val536Ala
ENST00000689424.1:c.1865T>C	ENSP00000509852.1:p.Val622Ala
ENST00000691053.1:c.7640T>C	ENSP00000509168.1:p.Val2547Ala
ENST00000389506.10:c.7559T>C	ENSP00000374157.5:p.Val2520Ala
ENST00000528278.2:n.6910T>C
ENST00000534358.8:c.7568T>C MANE Select	ENSP00000436786.2:p.Val2523Ala
ENST00000649699.1:c.7445T>C	ENSP00000496927.1:p.Val2482Ala
ENST00000389506.9:c.7559T>C	ENSP00000374157.5:p.Val2520Ala
ENST00000528278.1:n.1695T>C
ENST00000534358.5:c.7568T>C	ENSP00000436786.1:p.Val2523Ala
NM_001197104.1:c.7568T>C , LRG_613t1:c.7568T>C	NP_001184033.1:p.Val2523Ala
NM_005933.3:c.7559T>C	NP_005924.2:p.Val2520Ala
XM_006718839.2:c.5051T>C	XP_006718902.2:p.Val1684Ala
XM_011542829.1:c.7667T>C	XP_011541131.1:p.Val2556Ala
XM_011542830.1:c.7664T>C	XP_011541132.1:p.Val2555Ala
XM_011542831.1:c.7658T>C	XP_011541133.1:p.Val2553Ala
XM_011542832.1:c.5474T>C	XP_011541134.1:p.Val1825Ala
XM_011542833.1:c.5150T>C	XP_011541135.1:p.Val1717Ala
XM_006718839.3:c.5051T>C	XP_006718902.2:p.Val1684Ala
XM_011542829.2:c.7667T>C	XP_011541131.1:p.Val2556Ala
XM_011542830.2:c.7664T>C	XP_011541132.1:p.Val2555Ala
XM_011542831.2:c.7658T>C	XP_011541133.1:p.Val2553Ala
XM_011542833.2:c.5150T>C	XP_011541135.1:p.Val1717Ala
NM_001197104.2:c.7568T>C MANE Select	NP_001184033.1:p.Val2523Ala
NM_005933.4:c.7559T>C	NP_005924.2:p.Val2520Ala