Canonical Allele Identifier: CA382805676

Gene: KMT2A

Linked Data

• ClinVar Variation Id: 2627301
• ClinVar RCV Id: RCV003388495
• dbSNP Id: rs1555046599
• MyVariant Identifiers: chr11:g.118374070A>G (hg19) ; chr11:g.118503355A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503355A>G , CM000673.2:g.118503355A>G	GRCh38
NC_000011.9:g.118374070A>G , CM000673.1:g.118374070A>G	GRCh37
NC_000011.8:g.117879280A>G	NCBI36
NG_027813.1:g.71866A>G , LRG_613:g.71866A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.7562A>G	ENSP00000432391.3:p.Asp2521Gly
ENST00000710560.1:c.7553A>G	ENSP00000518343.1:p.Asp2518Gly
ENST00000649878.2:c.1502A>G	ENSP00000497891.2:p.Asp501Gly
ENST00000685397.1:c.1502A>G	ENSP00000509586.1:p.Asp501Gly
ENST00000686370.1:c.1502A>G	ENSP00000509179.1:p.Asp501Gly
ENST00000689424.1:c.1760A>G	ENSP00000509852.1:p.Asp587Gly
ENST00000691053.1:c.7535A>G	ENSP00000509168.1:p.Asp2512Gly
ENST00000389506.10:c.7454A>G	ENSP00000374157.5:p.Asp2485Gly
ENST00000528278.2:n.6805A>G
ENST00000534358.8:c.7463A>G MANE Select	ENSP00000436786.2:p.Asp2488Gly
ENST00000649699.1:c.7340A>G	ENSP00000496927.1:p.Asp2447Gly
ENST00000389506.9:c.7454A>G	ENSP00000374157.5:p.Asp2485Gly
ENST00000528278.1:n.1590A>G
ENST00000534358.5:c.7463A>G	ENSP00000436786.1:p.Asp2488Gly
NM_001197104.1:c.7463A>G , LRG_613t1:c.7463A>G	NP_001184033.1:p.Asp2488Gly
NM_005933.3:c.7454A>G	NP_005924.2:p.Asp2485Gly
XM_006718839.2:c.4946A>G	XP_006718902.2:p.Asp1649Gly
XM_011542829.1:c.7562A>G	XP_011541131.1:p.Asp2521Gly
XM_011542830.1:c.7559A>G	XP_011541132.1:p.Asp2520Gly
XM_011542831.1:c.7553A>G	XP_011541133.1:p.Asp2518Gly
XM_011542832.1:c.5369A>G	XP_011541134.1:p.Asp1790Gly
XM_011542833.1:c.5045A>G	XP_011541135.1:p.Asp1682Gly
XM_006718839.3:c.4946A>G	XP_006718902.2:p.Asp1649Gly
XM_011542829.2:c.7562A>G	XP_011541131.1:p.Asp2521Gly
XM_011542830.2:c.7559A>G	XP_011541132.1:p.Asp2520Gly
XM_011542831.2:c.7553A>G	XP_011541133.1:p.Asp2518Gly
XM_011542833.2:c.5045A>G	XP_011541135.1:p.Asp1682Gly
NM_001197104.2:c.7463A>G MANE Select	NP_001184033.1:p.Asp2488Gly
NM_005933.4:c.7454A>G	NP_005924.2:p.Asp2485Gly