Canonical Allele Identifier: CA382806017

Gene: KMT2A

Linked Data

• ClinVar Variation Id: 2804410
• ClinVar RCV Id: RCV003684048
• MyVariant Identifiers: chr11:g.118374167A>T (hg19) ; chr11:g.118503452A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503452A>T , CM000673.2:g.118503452A>T	GRCh38
NC_000011.9:g.118374167A>T , CM000673.1:g.118374167A>T	GRCh37
NC_000011.8:g.117879377A>T	NCBI36
NG_027813.1:g.71963A>T , LRG_613:g.71963A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000531904.7:c.7659A>T	ENSP00000432391.3:p.Lys2553Asn
ENST00000710560.1:c.7650A>T	ENSP00000518343.1:p.Lys2550Asn
ENST00000649878.2:c.1599A>T	ENSP00000497891.2:p.Lys533Asn
ENST00000685397.1:c.1599A>T	ENSP00000509586.1:p.Lys533Asn
ENST00000686370.1:c.1599A>T	ENSP00000509179.1:p.Lys533Asn
ENST00000689424.1:c.1857A>T	ENSP00000509852.1:p.Lys619Asn
ENST00000691053.1:c.7632A>T	ENSP00000509168.1:p.Lys2544Asn
ENST00000389506.10:c.7551A>T	ENSP00000374157.5:p.Lys2517Asn
ENST00000528278.2:n.6902A>T
ENST00000534358.8:c.7560A>T MANE Select	ENSP00000436786.2:p.Lys2520Asn
ENST00000649699.1:c.7437A>T	ENSP00000496927.1:p.Lys2479Asn
ENST00000389506.9:c.7551A>T	ENSP00000374157.5:p.Lys2517Asn
ENST00000528278.1:n.1687A>T
ENST00000534358.5:c.7560A>T	ENSP00000436786.1:p.Lys2520Asn
NM_001197104.1:c.7560A>T , LRG_613t1:c.7560A>T	NP_001184033.1:p.Lys2520Asn
NM_005933.3:c.7551A>T	NP_005924.2:p.Lys2517Asn
XM_006718839.2:c.5043A>T	XP_006718902.2:p.Lys1681Asn
XM_011542829.1:c.7659A>T	XP_011541131.1:p.Lys2553Asn
XM_011542830.1:c.7656A>T	XP_011541132.1:p.Lys2552Asn
XM_011542831.1:c.7650A>T	XP_011541133.1:p.Lys2550Asn
XM_011542832.1:c.5466A>T	XP_011541134.1:p.Lys1822Asn
XM_011542833.1:c.5142A>T	XP_011541135.1:p.Lys1714Asn
XM_006718839.3:c.5043A>T	XP_006718902.2:p.Lys1681Asn
XM_011542829.2:c.7659A>T	XP_011541131.1:p.Lys2553Asn
XM_011542830.2:c.7656A>T	XP_011541132.1:p.Lys2552Asn
XM_011542831.2:c.7650A>T	XP_011541133.1:p.Lys2550Asn
XM_011542833.2:c.5142A>T	XP_011541135.1:p.Lys1714Asn
NM_001197104.2:c.7560A>T MANE Select	NP_001184033.1:p.Lys2520Asn
NM_005933.4:c.7551A>T	NP_005924.2:p.Lys2517Asn