Canonical Allele Identifier: CA229526299

Gene: KMT2A

Linked Data

• dbSNP Id: rs369443279
• gnomAD v3: 11-118502596-C-T
• gnomAD v4: 11-118502596-C-T
• MyVariant Identifiers: chr11:g.118373311C>T (hg19) ; chr11:g.118502596C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118502596C>T , CM000673.2:g.118502596C>T	GRCh38
NC_000011.9:g.118373311C>T , CM000673.1:g.118373311C>T	GRCh37
NC_000011.8:g.117878521C>T	NCBI36
NG_027813.1:g.71107C>T , LRG_613:g.71107C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.6803C>T	ENSP00000432391.3:p.Thr2268Ile
ENST00000710560.1:c.6794C>T	ENSP00000518343.1:p.Thr2265Ile
ENST00000649878.2:c.743C>T	ENSP00000497891.2:p.Thr248Ile
ENST00000685397.1:c.743C>T	ENSP00000509586.1:p.Thr248Ile
ENST00000686370.1:c.743C>T	ENSP00000509179.1:p.Thr248Ile
ENST00000689424.1:c.1001C>T	ENSP00000509852.1:p.Thr334Ile
ENST00000691053.1:c.6776C>T	ENSP00000509168.1:p.Thr2259Ile
ENST00000389506.10:c.6695C>T	ENSP00000374157.5:p.Thr2232Ile
ENST00000528278.2:n.6046C>T
ENST00000534358.8:c.6704C>T MANE Select	ENSP00000436786.2:p.Thr2235Ile
ENST00000649699.1:c.6581C>T	ENSP00000496927.1:p.Thr2194Ile
ENST00000389506.9:c.6695C>T	ENSP00000374157.5:p.Thr2232Ile
ENST00000528278.1:n.831C>T
ENST00000534358.5:c.6704C>T	ENSP00000436786.1:p.Thr2235Ile
NM_001197104.1:c.6704C>T , LRG_613t1:c.6704C>T	NP_001184033.1:p.Thr2235Ile
NM_005933.3:c.6695C>T	NP_005924.2:p.Thr2232Ile
XM_006718839.2:c.4187C>T	XP_006718902.2:p.Thr1396Ile
XM_011542829.1:c.6803C>T	XP_011541131.1:p.Thr2268Ile
XM_011542830.1:c.6800C>T	XP_011541132.1:p.Thr2267Ile
XM_011542831.1:c.6794C>T	XP_011541133.1:p.Thr2265Ile
XM_011542832.1:c.4610C>T	XP_011541134.1:p.Thr1537Ile
XM_011542833.1:c.4286C>T	XP_011541135.1:p.Thr1429Ile
XM_006718839.3:c.4187C>T	XP_006718902.2:p.Thr1396Ile
XM_011542829.2:c.6803C>T	XP_011541131.1:p.Thr2268Ile
XM_011542830.2:c.6800C>T	XP_011541132.1:p.Thr2267Ile
XM_011542831.2:c.6794C>T	XP_011541133.1:p.Thr2265Ile
XM_011542833.2:c.4286C>T	XP_011541135.1:p.Thr1429Ile
NM_001197104.2:c.6704C>T MANE Select	NP_001184033.1:p.Thr2235Ile
NM_005933.4:c.6695C>T	NP_005924.2:p.Thr2232Ile