Canonical Allele Identifier: CA382802644

Gene: KMT2A

Linked Data

• gnomAD v4: 11-118502567-T-G
• MyVariant Identifiers: chr11:g.118373282T>G (hg19) ; chr11:g.118502567T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118502567T>G , CM000673.2:g.118502567T>G	GRCh38
NC_000011.9:g.118373282T>G , CM000673.1:g.118373282T>G	GRCh37
NC_000011.8:g.117878492T>G	NCBI36
NG_027813.1:g.71078T>G , LRG_613:g.71078T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000531904.7:c.6774T>G	ENSP00000432391.3:p.Asn2258Lys
ENST00000710560.1:c.6765T>G	ENSP00000518343.1:p.Asn2255Lys
ENST00000649878.2:c.714T>G	ENSP00000497891.2:p.Asn238Lys
ENST00000685397.1:c.714T>G	ENSP00000509586.1:p.Asn238Lys
ENST00000686370.1:c.714T>G	ENSP00000509179.1:p.Asn238Lys
ENST00000689424.1:c.972T>G	ENSP00000509852.1:p.Asn324Lys
ENST00000691053.1:c.6747T>G	ENSP00000509168.1:p.Asn2249Lys
ENST00000389506.10:c.6666T>G	ENSP00000374157.5:p.Asn2222Lys
ENST00000528278.2:n.6017T>G
ENST00000534358.8:c.6675T>G MANE Select	ENSP00000436786.2:p.Asn2225Lys
ENST00000649699.1:c.6552T>G	ENSP00000496927.1:p.Asn2184Lys
ENST00000389506.9:c.6666T>G	ENSP00000374157.5:p.Asn2222Lys
ENST00000528278.1:n.802T>G
ENST00000534358.5:c.6675T>G	ENSP00000436786.1:p.Asn2225Lys
NM_001197104.1:c.6675T>G , LRG_613t1:c.6675T>G	NP_001184033.1:p.Asn2225Lys
NM_005933.3:c.6666T>G	NP_005924.2:p.Asn2222Lys
XM_006718839.2:c.4158T>G	XP_006718902.2:p.Asn1386Lys
XM_011542829.1:c.6774T>G	XP_011541131.1:p.Asn2258Lys
XM_011542830.1:c.6771T>G	XP_011541132.1:p.Asn2257Lys
XM_011542831.1:c.6765T>G	XP_011541133.1:p.Asn2255Lys
XM_011542832.1:c.4581T>G	XP_011541134.1:p.Asn1527Lys
XM_011542833.1:c.4257T>G	XP_011541135.1:p.Asn1419Lys
XM_006718839.3:c.4158T>G	XP_006718902.2:p.Asn1386Lys
XM_011542829.2:c.6774T>G	XP_011541131.1:p.Asn2258Lys
XM_011542830.2:c.6771T>G	XP_011541132.1:p.Asn2257Lys
XM_011542831.2:c.6765T>G	XP_011541133.1:p.Asn2255Lys
XM_011542833.2:c.4257T>G	XP_011541135.1:p.Asn1419Lys
NM_001197104.2:c.6675T>G MANE Select	NP_001184033.1:p.Asn2225Lys
NM_005933.4:c.6666T>G	NP_005924.2:p.Asn2222Lys