Canonical Allele Identifier: CA382804936

Gene: KMT2A

Linked Data

• dbSNP Id: rs1555046485
• gnomAD v2: 11-118373886-G-A
• gnomAD v4: 11-118503171-G-A
• MyVariant Identifiers: chr11:g.118373886G>A (hg19) ; chr11:g.118503171G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503171G>A , CM000673.2:g.118503171G>A	GRCh38
NC_000011.9:g.118373886G>A , CM000673.1:g.118373886G>A	GRCh37
NC_000011.8:g.117879096G>A	NCBI36
NG_027813.1:g.71682G>A , LRG_613:g.71682G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.7378G>A	ENSP00000432391.3:p.Asp2460Asn
ENST00000710560.1:c.7369G>A	ENSP00000518343.1:p.Asp2457Asn
ENST00000649878.2:c.1318G>A	ENSP00000497891.2:p.Asp440Asn
ENST00000685397.1:c.1318G>A	ENSP00000509586.1:p.Asp440Asn
ENST00000686370.1:c.1318G>A	ENSP00000509179.1:p.Asp440Asn
ENST00000689424.1:c.1576G>A	ENSP00000509852.1:p.Asp526Asn
ENST00000691053.1:c.7351G>A	ENSP00000509168.1:p.Asp2451Asn
ENST00000389506.10:c.7270G>A	ENSP00000374157.5:p.Asp2424Asn
ENST00000528278.2:n.6621G>A
ENST00000534358.8:c.7279G>A MANE Select	ENSP00000436786.2:p.Asp2427Asn
ENST00000649699.1:c.7156G>A	ENSP00000496927.1:p.Asp2386Asn
ENST00000389506.9:c.7270G>A	ENSP00000374157.5:p.Asp2424Asn
ENST00000528278.1:n.1406G>A
ENST00000534358.5:c.7279G>A	ENSP00000436786.1:p.Asp2427Asn
NM_001197104.1:c.7279G>A , LRG_613t1:c.7279G>A	NP_001184033.1:p.Asp2427Asn
NM_005933.3:c.7270G>A	NP_005924.2:p.Asp2424Asn
XM_006718839.2:c.4762G>A	XP_006718902.2:p.Asp1588Asn
XM_011542829.1:c.7378G>A	XP_011541131.1:p.Asp2460Asn
XM_011542830.1:c.7375G>A	XP_011541132.1:p.Asp2459Asn
XM_011542831.1:c.7369G>A	XP_011541133.1:p.Asp2457Asn
XM_011542832.1:c.5185G>A	XP_011541134.1:p.Asp1729Asn
XM_011542833.1:c.4861G>A	XP_011541135.1:p.Asp1621Asn
XM_006718839.3:c.4762G>A	XP_006718902.2:p.Asp1588Asn
XM_011542829.2:c.7378G>A	XP_011541131.1:p.Asp2460Asn
XM_011542830.2:c.7375G>A	XP_011541132.1:p.Asp2459Asn
XM_011542831.2:c.7369G>A	XP_011541133.1:p.Asp2457Asn
XM_011542833.2:c.4861G>A	XP_011541135.1:p.Asp1621Asn
NM_001197104.2:c.7279G>A MANE Select	NP_001184033.1:p.Asp2427Asn
NM_005933.4:c.7270G>A	NP_005924.2:p.Asp2424Asn