Canonical Allele Identifier: CA368793834

Gene: KMT2E SRPK2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.105112665G>C , CM000669.2:g.105112665G>C	GRCh38
NC_000007.13:g.104753112G>C , CM000669.1:g.104753112G>C	GRCh37
NC_000007.12:g.104540348G>C	NCBI36
NG_033949.1:g.103476G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_182931.3:c.4909G>C (KMT2E) MANE Select	NP_891847.1:p.Gly1637Arg
ENST00000311117.8:c.4909G>C (KMT2E) MANE Select	ENSP00000312379.3:p.Gly1637Arg
NM_018682.3:c.4909G>C (KMT2E)	NP_061152.3:p.Gly1637Arg
NM_018682.4:c.4909G>C (KMT2E)	NP_061152.3:p.Gly1637Arg
NM_182931.2:c.4909G>C (KMT2E)	NP_891847.1:p.Gly1637Arg
ENST00000257745.8:c.4909G>C (KMT2E)	ENSP00000257745.4:p.Gly1637Arg
ENST00000311117.7:c.4909G>C (KMT2E)	ENSP00000312379.3:p.Gly1637Arg
ENST00000334884.9:c.*2012G>C (KMT2E)	ENSP00000335398.5:n.*2012G>C
ENST00000334914.11:c.4669G>C (KMT2E)	ENSP00000333986.8:p.Gly1557Arg
ENST00000473063.2:c.4783G>C (KMT2E)	ENSP00000417156.2:p.Gly1595Arg
ENST00000478079.2:c.*1514G>C (KMT2E)	ENSP00000419525.2:n.*1514G>C
ENST00000493638.1:n.231-1477C>G (SRPK2)
XM_005250493.1:c.4909G>C (KMT2E)	XP_005250550.1:p.Gly1637Arg
XM_006716049.1:c.4783G>C (KMT2E)	XP_006716112.1:p.Gly1595Arg
XM_011516400.1:c.4909G>C (KMT2E)	XP_011514702.1:p.Gly1637Arg
XM_011516400.2:c.4909G>C (KMT2E)	XP_011514702.1:p.Gly1637Arg
XM_017012435.2:c.4471G>C (KMT2E)	XP_016867924.1:p.Gly1491Arg
XM_024446837.1:c.4909G>C (KMT2E)	XP_024302605.1:p.Gly1637Arg
XR_001744860.2:n.2929-1477C>G (SRPK2)