Canonical Allele Identifier: CA382806024

Gene: KMT2A

Linked Data

• gnomAD v4: 11-118503456-A-G
• MyVariant Identifiers: chr11:g.118374171A>G (hg19) ; chr11:g.118503456A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503456A>G , CM000673.2:g.118503456A>G	GRCh38
NC_000011.9:g.118374171A>G , CM000673.1:g.118374171A>G	GRCh37
NC_000011.8:g.117879381A>G	NCBI36
NG_027813.1:g.71967A>G , LRG_613:g.71967A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000531904.7:c.7663A>G	ENSP00000432391.3:p.Thr2555Ala
ENST00000710560.1:c.7654A>G	ENSP00000518343.1:p.Thr2552Ala
ENST00000649878.2:c.1603A>G	ENSP00000497891.2:p.Thr535Ala
ENST00000685397.1:c.1603A>G	ENSP00000509586.1:p.Thr535Ala
ENST00000686370.1:c.1603A>G	ENSP00000509179.1:p.Thr535Ala
ENST00000689424.1:c.1861A>G	ENSP00000509852.1:p.Thr621Ala
ENST00000691053.1:c.7636A>G	ENSP00000509168.1:p.Thr2546Ala
ENST00000389506.10:c.7555A>G	ENSP00000374157.5:p.Thr2519Ala
ENST00000528278.2:n.6906A>G
ENST00000534358.8:c.7564A>G MANE Select	ENSP00000436786.2:p.Thr2522Ala
ENST00000649699.1:c.7441A>G	ENSP00000496927.1:p.Thr2481Ala
ENST00000389506.9:c.7555A>G	ENSP00000374157.5:p.Thr2519Ala
ENST00000528278.1:n.1691A>G
ENST00000534358.5:c.7564A>G	ENSP00000436786.1:p.Thr2522Ala
NM_001197104.1:c.7564A>G , LRG_613t1:c.7564A>G	NP_001184033.1:p.Thr2522Ala
NM_005933.3:c.7555A>G	NP_005924.2:p.Thr2519Ala
XM_006718839.2:c.5047A>G	XP_006718902.2:p.Thr1683Ala
XM_011542829.1:c.7663A>G	XP_011541131.1:p.Thr2555Ala
XM_011542830.1:c.7660A>G	XP_011541132.1:p.Thr2554Ala
XM_011542831.1:c.7654A>G	XP_011541133.1:p.Thr2552Ala
XM_011542832.1:c.5470A>G	XP_011541134.1:p.Thr1824Ala
XM_011542833.1:c.5146A>G	XP_011541135.1:p.Thr1716Ala
XM_006718839.3:c.5047A>G	XP_006718902.2:p.Thr1683Ala
XM_011542829.2:c.7663A>G	XP_011541131.1:p.Thr2555Ala
XM_011542830.2:c.7660A>G	XP_011541132.1:p.Thr2554Ala
XM_011542831.2:c.7654A>G	XP_011541133.1:p.Thr2552Ala
XM_011542833.2:c.5146A>G	XP_011541135.1:p.Thr1716Ala
NM_001197104.2:c.7564A>G MANE Select	NP_001184033.1:p.Thr2522Ala
NM_005933.4:c.7555A>G	NP_005924.2:p.Thr2519Ala