Canonical Allele Identifier: CA9384003

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35719533C>T , CM000681.2:g.35719533C>T	GRCh38
NC_000019.9:g.36210435C>T , CM000681.1:g.36210435C>T	GRCh37
NC_000019.8:g.40902275C>T	NCBI36
NG_052906.1:g.6515C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014727.3:c.428C>T MANE Select	NP_055542.1:p.Ser143Phe
ENST00000420124.4:c.428C>T MANE Select	ENSP00000398837.2:p.Ser143Phe
NM_014727.2:c.428C>T	NP_055542.1:p.Ser143Phe
ENST00000420124.2:c.428C>T	ENSP00000398837.1:p.Ser143Phe
ENST00000673918.1:c.428C>T	ENSP00000501283.1:p.Ser143Phe
ENST00000673918.2:c.428C>T	ENSP00000501283.1:p.Ser143Phe
ENST00000687718.1:c.364-251C>T	ENSP00000510535.1:n.364-251C>T
ENST00000692961.1:c.428C>T	ENSP00000509289.1:p.Ser143Phe
XM_011527561.1:c.428C>T	XP_011525863.1:p.Ser143Phe
XM_011527561.2:c.-71C>T	XP_011525863.2:n.-71C>T
XM_011527562.1:c.428C>T	XP_011525864.1:p.Ser143Phe
XM_011527562.2:c.428C>T	XP_011525864.1:p.Ser143Phe
XM_011527563.1:c.428C>T	XP_011525865.1:p.Ser143Phe
XM_017027544.1:c.428C>T	XP_016883033.1:p.Ser143Phe
XM_017027545.1:c.-128-251C>T	XP_016883034.1:n.-128-251C>T
XR_935878.1:n.452C>T
XR_935878.2:n.629C>T