Canonical Allele Identifier: CA236630268

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022629G>A , CM000674.2:g.49022629G>A	GRCh38
NC_000012.11:g.49416412G>A , CM000674.1:g.49416412G>A	GRCh37
NC_000012.10:g.47702679G>A	NCBI36
NG_027827.1:g.37696C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.16299C>T MANE Select	NP_003473.3:p.Asn5433=
ENST00000301067.12:c.16299C>T MANE Select	ENSP00000301067.7:p.Asn5433=
NM_003482.3:c.16299C>T	NP_003473.3:p.Asn5433=
ENST00000301067.11:c.16299C>T	ENSP00000301067.7:p.Asn5433=
ENST00000526209.1:c.342C>T	ENSP00000435714.1:p.Asn114=
ENST00000526209.2:c.269C>T
ENST00000681974.1:n.971C>T
ENST00000682693.1:n.1933C>T
ENST00000682886.1:n.469C>T
ENST00000683543.2:c.16347C>T	ENSP00000506726.1:p.Asn5449=
ENST00000683988.1:c.270C>T	ENSP00000506939.1:p.Asn90=
ENST00000684428.1:c.834C>T	ENSP00000507433.1:p.Asn278=
ENST00000684755.1:n.882C>T
ENST00000685024.1:c.1453C>T
ENST00000685166.1:c.16308C>T	ENSP00000509386.1:p.Asn5436=
ENST00000688411.1:c.776C>T	ENSP00000510146.1:n.776C>T
ENST00000691932.1:c.300C>T	ENSP00000509037.1:p.Asn100=
ENST00000692637.1:c.16296C>T	ENSP00000509666.1:p.Asn5432=
XM_005269162.3:c.16299C>T	XP_005269219.1:p.Asn5433=
XM_005269162.4:c.16299C>T	XP_005269219.1:p.Asn5433=
XM_006719614.2:c.16308C>T	XP_006719677.1:p.Asn5436=
XM_006719614.4:c.16308C>T	XP_006719677.1:p.Asn5436=
XM_006719616.2:c.16296C>T	XP_006719679.1:p.Asn5432=
XM_006719616.3:c.16296C>T	XP_006719679.1:p.Asn5432=
XM_011538770.1:c.16356C>T	XP_011537072.1:p.Asn5452=
XM_011538770.2:c.16356C>T	XP_011537072.1:p.Asn5452=
XM_011538771.1:c.16353C>T	XP_011537073.1:p.Asn5451=
XM_011538771.2:c.16353C>T	XP_011537073.1:p.Asn5451=
XM_011538772.1:c.16347C>T	XP_011537074.1:p.Asn5449=
XM_011538772.2:c.16347C>T	XP_011537074.1:p.Asn5449=
XM_011538773.1:c.16344C>T	XP_011537075.1:p.Asn5448=
XM_011538773.2:c.16344C>T	XP_011537075.1:p.Asn5448=
XM_011538774.1:c.16335C>T	XP_011537076.1:p.Asn5445=
XM_011538774.2:c.16335C>T	XP_011537076.1:p.Asn5445=
XM_011538775.1:c.16290C>T	XP_011537077.1:p.Asn5430=
XM_011538776.1:c.16263C>T	XP_011537078.1:p.Asn5421=
XM_011538776.2:c.16263C>T	XP_011537078.1:p.Asn5421=
XR_001748874.1:n.16476C>T