Canonical Allele Identifier: CA382802967

Gene: KMT2A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118502665G>A , CM000673.2:g.118502665G>A	GRCh38
NC_000011.9:g.118373380G>A , CM000673.1:g.118373380G>A	GRCh37
NC_000011.8:g.117878590G>A	NCBI36
NG_027813.1:g.71176G>A , LRG_613:g.71176G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001197104.2:c.6773G>A MANE Select	NP_001184033.1:p.Ser2258Asn
ENST00000534358.8:c.6773G>A MANE Select	ENSP00000436786.2:p.Ser2258Asn
NM_001197104.1:c.6773G>A , LRG_613t1:c.6773G>A	NP_001184033.1:p.Ser2258Asn
NM_005933.3:c.6764G>A	NP_005924.2:p.Ser2255Asn
NM_005933.4:c.6764G>A	NP_005924.2:p.Ser2255Asn
ENST00000389506.10:c.6764G>A	ENSP00000374157.5:p.Ser2255Asn
ENST00000389506.9:c.6764G>A	ENSP00000374157.5:p.Ser2255Asn
ENST00000528278.1:n.900G>A
ENST00000528278.2:n.6115G>A
ENST00000531904.7:c.6872G>A	ENSP00000432391.3:p.Ser2291Asn
ENST00000534358.5:c.6773G>A	ENSP00000436786.1:p.Ser2258Asn
ENST00000649699.1:c.6650G>A	ENSP00000496927.1:p.Ser2217Asn
ENST00000649878.2:c.812G>A	ENSP00000497891.2:p.Ser271Asn
ENST00000685397.1:c.812G>A	ENSP00000509586.1:p.Ser271Asn
ENST00000686370.1:c.812G>A	ENSP00000509179.1:p.Ser271Asn
ENST00000689424.1:c.1070G>A	ENSP00000509852.1:p.Ser357Asn
ENST00000691053.1:c.6845G>A	ENSP00000509168.1:p.Ser2282Asn
ENST00000710560.1:c.6863G>A	ENSP00000518343.1:p.Ser2288Asn
XM_006718839.2:c.4256G>A	XP_006718902.2:p.Ser1419Asn
XM_006718839.3:c.4256G>A	XP_006718902.2:p.Ser1419Asn
XM_011542829.1:c.6872G>A	XP_011541131.1:p.Ser2291Asn
XM_011542829.2:c.6872G>A	XP_011541131.1:p.Ser2291Asn
XM_011542830.1:c.6869G>A	XP_011541132.1:p.Ser2290Asn
XM_011542830.2:c.6869G>A	XP_011541132.1:p.Ser2290Asn
XM_011542831.1:c.6863G>A	XP_011541133.1:p.Ser2288Asn
XM_011542831.2:c.6863G>A	XP_011541133.1:p.Ser2288Asn
XM_011542832.1:c.4679G>A	XP_011541134.1:p.Ser1560Asn
XM_011542833.1:c.4355G>A	XP_011541135.1:p.Ser1452Asn
XM_011542833.2:c.4355G>A	XP_011541135.1:p.Ser1452Asn