Canonical Allele Identifier: CA382797351

Gene: KMT2A

Linked Data

• dbSNP Id: rs1949186893
• gnomAD v3: 11-118436658-G-T
• gnomAD v4: 11-118436658-G-T
• MyVariant Identifiers: chr11:g.118307373G>T (hg19) ; chr11:g.118436658G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118436658G>T , CM000673.2:g.118436658G>T	GRCh38
NC_000011.9:g.118307373G>T , CM000673.1:g.118307373G>T	GRCh37
NC_000011.8:g.117812583G>T	NCBI36
NG_027813.1:g.5169G>T , LRG_613:g.5169G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.146G>T	ENSP00000432391.3:p.Gly49Val
ENST00000710560.1:c.146G>T	ENSP00000518343.1:p.Gly49Val
ENST00000527869.7:c.146G>T	ENSP00000432652.3:p.Gly49Val
ENST00000529852.3:c.146G>T	ENSP00000436564.2:p.Gly49Val
ENST00000532204.6:c.146G>T	ENSP00000434618.2:p.Gly49Val
ENST00000533790.3:c.146G>T	ENSP00000436700.3:p.Gly49Val
ENST00000649666.2:c.146G>T	ENSP00000497918.2:p.Gly49Val
ENST00000649690.2:c.146G>T	ENSP00000497372.2:p.Gly49Val
ENST00000691053.1:c.146G>T	ENSP00000509168.1:p.Gly49Val
ENST00000389506.10:c.146G>T	ENSP00000374157.5:p.Gly49Val
ENST00000534358.8:c.146G>T MANE Select	ENSP00000436786.2:p.Gly49Val
ENST00000648261.1:c.-798-32117G>T	ENSP00000498126.1:n.-798-32117G>T
ENST00000649464.1:c.214-10967G>T	ENSP00000497966.1:n.214-10967G>T
ENST00000649699.1:c.146G>T	ENSP00000496927.1:p.Gly49Val
ENST00000389506.9:c.146G>T	ENSP00000374157.5:p.Gly49Val
ENST00000531904.6:c.146G>T	ENSP00000432391.2:p.Gly49Val
ENST00000534358.5:c.146G>T	ENSP00000436786.1:p.Gly49Val
NM_001197104.1:c.146G>T , LRG_613t1:c.146G>T	NP_001184033.1:p.Gly49Val
NM_005933.3:c.146G>T	NP_005924.2:p.Gly49Val
XM_006718839.2:c.146G>T	XP_006718902.2:p.Gly49Val
XM_011542829.1:c.146G>T	XP_011541131.1:p.Gly49Val
XM_011542830.1:c.146G>T	XP_011541132.1:p.Gly49Val
XM_011542831.1:c.146G>T	XP_011541133.1:p.Gly49Val
XM_011542832.1:c.146G>T	XP_011541134.1:p.Gly49Val
XM_011542833.1:c.146G>T	XP_011541135.1:p.Gly49Val
XM_006718839.3:c.146G>T	XP_006718902.2:p.Gly49Val
XM_011542829.2:c.146G>T	XP_011541131.1:p.Gly49Val
XM_011542830.2:c.146G>T	XP_011541132.1:p.Gly49Val
XM_011542831.2:c.146G>T	XP_011541133.1:p.Gly49Val
XM_011542833.2:c.146G>T	XP_011541135.1:p.Gly49Val
NM_001197104.2:c.146G>T MANE Select	NP_001184033.1:p.Gly49Val
NM_005933.4:c.146G>T	NP_005924.2:p.Gly49Val