Canonical Allele Identifier: CA368794075

Gene: KMT2E SRPK2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.105112781C>G , CM000669.2:g.105112781C>G	GRCh38
NC_000007.13:g.104753228C>G , CM000669.1:g.104753228C>G	GRCh37
NC_000007.12:g.104540464C>G	NCBI36
NG_033949.1:g.103592C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473063.2:c.4899C>G (KMT2E)	ENSP00000417156.2:p.His1633Gln
ENST00000478079.2:c.*1630C>G (KMT2E)	ENSP00000419525.2:n.*1630C>G
ENST00000311117.8:c.5025C>G (KMT2E) MANE Select	ENSP00000312379.3:p.His1675Gln
ENST00000257745.8:c.5025C>G (KMT2E)	ENSP00000257745.4:p.His1675Gln
ENST00000311117.7:c.5025C>G (KMT2E)	ENSP00000312379.3:p.His1675Gln
ENST00000334884.9:c.*2128C>G (KMT2E)	ENSP00000335398.5:n.*2128C>G
ENST00000334914.11:c.4785C>G (KMT2E)	ENSP00000333986.8:p.His1595Gln
ENST00000493638.1:n.231-1593G>C (SRPK2)
NM_018682.3:c.5025C>G (KMT2E)	NP_061152.3:p.His1675Gln
NM_182931.2:c.5025C>G (KMT2E)	NP_891847.1:p.His1675Gln
XM_005250493.1:c.5025C>G (KMT2E)	XP_005250550.1:p.His1675Gln
XM_006716049.1:c.4899C>G (KMT2E)	XP_006716112.1:p.His1633Gln
XM_011516400.1:c.5025C>G (KMT2E)	XP_011514702.1:p.His1675Gln
XM_011516400.2:c.5025C>G (KMT2E)	XP_011514702.1:p.His1675Gln
XM_017012435.2:c.4587C>G (KMT2E)	XP_016867924.1:p.His1529Gln
XM_024446837.1:c.5025C>G (KMT2E)	XP_024302605.1:p.His1675Gln
XR_001744860.2:n.2929-1593G>C (SRPK2)
NM_182931.3:c.5025C>G (KMT2E) MANE Select	NP_891847.1:p.His1675Gln
NM_018682.4:c.5025C>G (KMT2E)	NP_061152.3:p.His1675Gln