Canonical Allele Identifier: CA368790073

Gene: KMT2E

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.105109007C>G , CM000669.2:g.105109007C>G	GRCh38
NC_000007.13:g.104749454C>G , CM000669.1:g.104749454C>G	GRCh37
NC_000007.12:g.104536690C>G	NCBI36
NG_033949.1:g.99818C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_182931.3:c.3534C>G MANE Select	NP_891847.1:p.Asn1178Lys
ENST00000311117.8:c.3534C>G MANE Select	ENSP00000312379.3:p.Asn1178Lys
NM_018682.3:c.3534C>G	NP_061152.3:p.Asn1178Lys
NM_018682.4:c.3534C>G	NP_061152.3:p.Asn1178Lys
NM_182931.2:c.3534C>G	NP_891847.1:p.Asn1178Lys
ENST00000257745.8:c.3534C>G	ENSP00000257745.4:p.Asn1178Lys
ENST00000257745.9:c.*2173C>G	ENSP00000257745.5:n.*2173C>G
ENST00000311117.7:c.3534C>G	ENSP00000312379.3:p.Asn1178Lys
ENST00000334884.9:c.*637C>G	ENSP00000335398.5:n.*637C>G
ENST00000334914.11:c.3294C>G	ENSP00000333986.8:p.Asn1098Lys
ENST00000473063.2:c.3534C>G	ENSP00000417156.2:p.Asn1178Lys
ENST00000478079.1:c.207C>G
ENST00000478079.2:c.*142C>G	ENSP00000419525.2:n.*142C>G
XM_005250493.1:c.3534C>G	XP_005250550.1:p.Asn1178Lys
XM_006716049.1:c.3534C>G	XP_006716112.1:p.Asn1178Lys
XM_011516400.1:c.3534C>G	XP_011514702.1:p.Asn1178Lys
XM_011516400.2:c.3534C>G	XP_011514702.1:p.Asn1178Lys
XM_017012435.2:c.3096C>G	XP_016867924.1:p.Asn1032Lys
XM_024446837.1:c.3534C>G	XP_024302605.1:p.Asn1178Lys
XR_001744836.2:n.4103C>G
XR_927489.1:n.4168C>G