Canonical Allele Identifier: CA368795420

Gene: KMT2E SRPK2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.105113307A>G , CM000669.2:g.105113307A>G	GRCh38
NC_000007.13:g.104753754A>G , CM000669.1:g.104753754A>G	GRCh37
NC_000007.12:g.104540990A>G	NCBI36
NG_033949.1:g.104118A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473063.2:c.5425A>G (KMT2E)	ENSP00000417156.2:p.Asn1809Asp
ENST00000478079.2:c.*2156A>G (KMT2E)	ENSP00000419525.2:n.*2156A>G
ENST00000311117.8:c.5551A>G (KMT2E) MANE Select	ENSP00000312379.3:p.Asn1851Asp
ENST00000257745.8:c.5551A>G (KMT2E)	ENSP00000257745.4:p.Asn1851Asp
ENST00000311117.7:c.5551A>G (KMT2E)	ENSP00000312379.3:p.Asn1851Asp
ENST00000334884.9:c.*2654A>G (KMT2E)	ENSP00000335398.5:n.*2654A>G
ENST00000334914.11:c.5311A>G (KMT2E)	ENSP00000333986.8:p.Asn1771Asp
ENST00000493638.1:n.230+2080T>C (SRPK2)
NM_018682.3:c.5551A>G (KMT2E)	NP_061152.3:p.Asn1851Asp
NM_182931.2:c.5551A>G (KMT2E)	NP_891847.1:p.Asn1851Asp
XM_005250493.1:c.5551A>G (KMT2E)	XP_005250550.1:p.Asn1851Asp
XM_006716049.1:c.5425A>G (KMT2E)	XP_006716112.1:p.Asn1809Asp
XM_011516400.1:c.5551A>G (KMT2E)	XP_011514702.1:p.Asn1851Asp
XM_011516400.2:c.5551A>G (KMT2E)	XP_011514702.1:p.Asn1851Asp
XM_017012435.2:c.5113A>G (KMT2E)	XP_016867924.1:p.Asn1705Asp
XM_024446837.1:c.5551A>G (KMT2E)	XP_024302605.1:p.Asn1851Asp
XR_001744860.2:n.2928+2080T>C (SRPK2)
NM_182931.3:c.5551A>G (KMT2E) MANE Select	NP_891847.1:p.Asn1851Asp
NM_018682.4:c.5551A>G (KMT2E)	NP_061152.3:p.Asn1851Asp