Canonical Allele Identifier: CA368791579

Gene: KMT2E SRPK2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.105111832C>T , CM000669.2:g.105111832C>T	GRCh38
NC_000007.13:g.104752279C>T , CM000669.1:g.104752279C>T	GRCh37
NC_000007.12:g.104539515C>T	NCBI36
NG_033949.1:g.102643C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_182931.3:c.4076C>T (KMT2E) MANE Select	NP_891847.1:p.Ser1359Leu
ENST00000311117.8:c.4076C>T (KMT2E) MANE Select	ENSP00000312379.3:p.Ser1359Leu
NM_018682.3:c.4076C>T (KMT2E)	NP_061152.3:p.Ser1359Leu
NM_018682.4:c.4076C>T (KMT2E)	NP_061152.3:p.Ser1359Leu
NM_182931.2:c.4076C>T (KMT2E)	NP_891847.1:p.Ser1359Leu
ENST00000257745.8:c.4076C>T (KMT2E)	ENSP00000257745.4:p.Ser1359Leu
ENST00000257745.9:c.*2715C>T (KMT2E)	ENSP00000257745.5:n.*2715C>T
ENST00000311117.7:c.4076C>T (KMT2E)	ENSP00000312379.3:p.Ser1359Leu
ENST00000334884.9:c.*1179C>T (KMT2E)	ENSP00000335398.5:n.*1179C>T
ENST00000334914.11:c.3836C>T (KMT2E)	ENSP00000333986.8:p.Ser1279Leu
ENST00000473063.2:c.3950C>T (KMT2E)	ENSP00000417156.2:p.Ser1317Leu
ENST00000478079.2:c.*681C>T (KMT2E)	ENSP00000419525.2:n.*681C>T
ENST00000493638.1:n.231-644G>A (SRPK2)
XM_005250493.1:c.4076C>T (KMT2E)	XP_005250550.1:p.Ser1359Leu
XM_006716049.1:c.3950C>T (KMT2E)	XP_006716112.1:p.Ser1317Leu
XM_011516400.1:c.4076C>T (KMT2E)	XP_011514702.1:p.Ser1359Leu
XM_011516400.2:c.4076C>T (KMT2E)	XP_011514702.1:p.Ser1359Leu
XM_017012435.2:c.3638C>T (KMT2E)	XP_016867924.1:p.Ser1213Leu
XM_024446837.1:c.4076C>T (KMT2E)	XP_024302605.1:p.Ser1359Leu
XR_001744860.2:n.2929-644G>A (SRPK2)