Canonical Allele Identifier: CA382805668

Gene: KMT2A

Linked Data

• dbSNP Id: rs2134392148
• gnomAD v4: 11-118503354-G-A
• MyVariant Identifiers: chr11:g.118374069G>A (hg19) ; chr11:g.118503354G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503354G>A , CM000673.2:g.118503354G>A	GRCh38
NC_000011.9:g.118374069G>A , CM000673.1:g.118374069G>A	GRCh37
NC_000011.8:g.117879279G>A	NCBI36
NG_027813.1:g.71865G>A , LRG_613:g.71865G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.7561G>A	ENSP00000432391.3:p.Asp2521Asn
ENST00000710560.1:c.7552G>A	ENSP00000518343.1:p.Asp2518Asn
ENST00000649878.2:c.1501G>A	ENSP00000497891.2:p.Asp501Asn
ENST00000685397.1:c.1501G>A	ENSP00000509586.1:p.Asp501Asn
ENST00000686370.1:c.1501G>A	ENSP00000509179.1:p.Asp501Asn
ENST00000689424.1:c.1759G>A	ENSP00000509852.1:p.Asp587Asn
ENST00000691053.1:c.7534G>A	ENSP00000509168.1:p.Asp2512Asn
ENST00000389506.10:c.7453G>A	ENSP00000374157.5:p.Asp2485Asn
ENST00000528278.2:n.6804G>A
ENST00000534358.8:c.7462G>A MANE Select	ENSP00000436786.2:p.Asp2488Asn
ENST00000649699.1:c.7339G>A	ENSP00000496927.1:p.Asp2447Asn
ENST00000389506.9:c.7453G>A	ENSP00000374157.5:p.Asp2485Asn
ENST00000528278.1:n.1589G>A
ENST00000534358.5:c.7462G>A	ENSP00000436786.1:p.Asp2488Asn
NM_001197104.1:c.7462G>A , LRG_613t1:c.7462G>A	NP_001184033.1:p.Asp2488Asn
NM_005933.3:c.7453G>A	NP_005924.2:p.Asp2485Asn
XM_006718839.2:c.4945G>A	XP_006718902.2:p.Asp1649Asn
XM_011542829.1:c.7561G>A	XP_011541131.1:p.Asp2521Asn
XM_011542830.1:c.7558G>A	XP_011541132.1:p.Asp2520Asn
XM_011542831.1:c.7552G>A	XP_011541133.1:p.Asp2518Asn
XM_011542832.1:c.5368G>A	XP_011541134.1:p.Asp1790Asn
XM_011542833.1:c.5044G>A	XP_011541135.1:p.Asp1682Asn
XM_006718839.3:c.4945G>A	XP_006718902.2:p.Asp1649Asn
XM_011542829.2:c.7561G>A	XP_011541131.1:p.Asp2521Asn
XM_011542830.2:c.7558G>A	XP_011541132.1:p.Asp2520Asn
XM_011542831.2:c.7552G>A	XP_011541133.1:p.Asp2518Asn
XM_011542833.2:c.5044G>A	XP_011541135.1:p.Asp1682Asn
NM_001197104.2:c.7462G>A MANE Select	NP_001184033.1:p.Asp2488Asn
NM_005933.4:c.7453G>A	NP_005924.2:p.Asp2485Asn