Canonical Allele Identifier: CA382805272

Gene: KMT2A

Linked Data

• MyVariant Identifiers: chr11:g.118373971T>C (hg19) ; chr11:g.118503256T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503256T>C , CM000673.2:g.118503256T>C	GRCh38
NC_000011.9:g.118373971T>C , CM000673.1:g.118373971T>C	GRCh37
NC_000011.8:g.117879181T>C	NCBI36
NG_027813.1:g.71767T>C , LRG_613:g.71767T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.7463T>C	ENSP00000432391.3:p.Val2488Ala
ENST00000710560.1:c.7454T>C	ENSP00000518343.1:p.Val2485Ala
ENST00000649878.2:c.1403T>C	ENSP00000497891.2:p.Val468Ala
ENST00000685397.1:c.1403T>C	ENSP00000509586.1:p.Val468Ala
ENST00000686370.1:c.1403T>C	ENSP00000509179.1:p.Val468Ala
ENST00000689424.1:c.1661T>C	ENSP00000509852.1:p.Val554Ala
ENST00000691053.1:c.7436T>C	ENSP00000509168.1:p.Val2479Ala
ENST00000389506.10:c.7355T>C	ENSP00000374157.5:p.Val2452Ala
ENST00000528278.2:n.6706T>C
ENST00000534358.8:c.7364T>C MANE Select	ENSP00000436786.2:p.Val2455Ala
ENST00000649699.1:c.7241T>C	ENSP00000496927.1:p.Val2414Ala
ENST00000389506.9:c.7355T>C	ENSP00000374157.5:p.Val2452Ala
ENST00000528278.1:n.1491T>C
ENST00000534358.5:c.7364T>C	ENSP00000436786.1:p.Val2455Ala
NM_001197104.1:c.7364T>C , LRG_613t1:c.7364T>C	NP_001184033.1:p.Val2455Ala
NM_005933.3:c.7355T>C	NP_005924.2:p.Val2452Ala
XM_006718839.2:c.4847T>C	XP_006718902.2:p.Val1616Ala
XM_011542829.1:c.7463T>C	XP_011541131.1:p.Val2488Ala
XM_011542830.1:c.7460T>C	XP_011541132.1:p.Val2487Ala
XM_011542831.1:c.7454T>C	XP_011541133.1:p.Val2485Ala
XM_011542832.1:c.5270T>C	XP_011541134.1:p.Val1757Ala
XM_011542833.1:c.4946T>C	XP_011541135.1:p.Val1649Ala
XM_006718839.3:c.4847T>C	XP_006718902.2:p.Val1616Ala
XM_011542829.2:c.7463T>C	XP_011541131.1:p.Val2488Ala
XM_011542830.2:c.7460T>C	XP_011541132.1:p.Val2487Ala
XM_011542831.2:c.7454T>C	XP_011541133.1:p.Val2485Ala
XM_011542833.2:c.4946T>C	XP_011541135.1:p.Val1649Ala
NM_001197104.2:c.7364T>C MANE Select	NP_001184033.1:p.Val2455Ala
NM_005933.4:c.7355T>C	NP_005924.2:p.Val2452Ala