Canonical Allele Identifier: CA368792685

Gene: KMT2E SRPK2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.105112201A>T , CM000669.2:g.105112201A>T	GRCh38
NC_000007.13:g.104752648A>T , CM000669.1:g.104752648A>T	GRCh37
NC_000007.12:g.104539884A>T	NCBI36
NG_033949.1:g.103012A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473063.2:c.4319A>T (KMT2E)	ENSP00000417156.2:p.His1440Leu
ENST00000478079.2:c.*1050A>T (KMT2E)	ENSP00000419525.2:n.*1050A>T
ENST00000257745.9:c.*3084A>T (KMT2E)	ENSP00000257745.5:n.*3084A>T
ENST00000311117.8:c.4445A>T (KMT2E) MANE Select	ENSP00000312379.3:p.His1482Leu
ENST00000257745.8:c.4445A>T (KMT2E)	ENSP00000257745.4:p.His1482Leu
ENST00000311117.7:c.4445A>T (KMT2E)	ENSP00000312379.3:p.His1482Leu
ENST00000334884.9:c.*1548A>T (KMT2E)	ENSP00000335398.5:n.*1548A>T
ENST00000334914.11:c.4205A>T (KMT2E)	ENSP00000333986.8:p.His1402Leu
ENST00000493638.1:n.231-1013T>A (SRPK2)
NM_018682.3:c.4445A>T (KMT2E)	NP_061152.3:p.His1482Leu
NM_182931.2:c.4445A>T (KMT2E)	NP_891847.1:p.His1482Leu
XM_005250493.1:c.4445A>T (KMT2E)	XP_005250550.1:p.His1482Leu
XM_006716049.1:c.4319A>T (KMT2E)	XP_006716112.1:p.His1440Leu
XM_011516400.1:c.4445A>T (KMT2E)	XP_011514702.1:p.His1482Leu
XM_011516400.2:c.4445A>T (KMT2E)	XP_011514702.1:p.His1482Leu
XM_017012435.2:c.4007A>T (KMT2E)	XP_016867924.1:p.His1336Leu
XM_024446837.1:c.4445A>T (KMT2E)	XP_024302605.1:p.His1482Leu
XR_001744860.2:n.2929-1013T>A (SRPK2)
NM_182931.3:c.4445A>T (KMT2E) MANE Select	NP_891847.1:p.His1482Leu
NM_018682.4:c.4445A>T (KMT2E)	NP_061152.3:p.His1482Leu