Canonical Allele Identifier: CA384676772

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137704905
• MyVariant Identifiers: chr12:g.49416080C>G (hg19) ; chr12:g.49022297C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022297C>G , CM000674.2:g.49022297C>G	GRCh38
NC_000012.11:g.49416080C>G , CM000674.1:g.49416080C>G	GRCh37
NC_000012.10:g.47702347C>G	NCBI36
NG_027827.1:g.38028G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.365G>C
ENST00000681974.1:n.1067G>C
ENST00000682693.1:n.2029G>C
ENST00000682886.1:n.801G>C
ENST00000683543.2:c.16443G>C	ENSP00000506726.1:p.Leu5481Phe
ENST00000683988.1:c.366G>C	ENSP00000506939.1:p.Leu122Phe
ENST00000684428.1:c.988G>C	ENSP00000507433.1:n.988G>C
ENST00000685024.1:c.1549G>C
ENST00000685166.1:c.16404G>C	ENSP00000509386.1:p.Leu5468Phe
ENST00000691932.1:c.396G>C	ENSP00000509037.1:p.Leu132Phe
ENST00000692637.1:c.16392G>C	ENSP00000509666.1:p.Leu5464Phe
ENST00000301067.12:c.16395G>C MANE Select	ENSP00000301067.7:p.Leu5465Phe
ENST00000301067.11:c.16395G>C	ENSP00000301067.7:p.Leu5465Phe
ENST00000526209.1:c.438G>C	ENSP00000435714.1:p.Leu146Phe
NM_003482.3:c.16395G>C	NP_003473.3:p.Leu5465Phe
XM_005269162.3:c.16395G>C	XP_005269219.1:p.Leu5465Phe
XM_006719614.2:c.16404G>C	XP_006719677.1:p.Leu5468Phe
XM_006719616.2:c.16392G>C	XP_006719679.1:p.Leu5464Phe
XM_011538770.1:c.16452G>C	XP_011537072.1:p.Leu5484Phe
XM_011538771.1:c.16449G>C	XP_011537073.1:p.Leu5483Phe
XM_011538772.1:c.16443G>C	XP_011537074.1:p.Leu5481Phe
XM_011538773.1:c.16440G>C	XP_011537075.1:p.Leu5480Phe
XM_011538774.1:c.16431G>C	XP_011537076.1:p.Leu5477Phe
XM_011538775.1:c.16386G>C	XP_011537077.1:p.Leu5462Phe
XM_011538776.1:c.16359G>C	XP_011537078.1:p.Leu5453Phe
XM_005269162.4:c.16395G>C	XP_005269219.1:p.Leu5465Phe
XM_006719614.4:c.16404G>C	XP_006719677.1:p.Leu5468Phe
XM_006719616.3:c.16392G>C	XP_006719679.1:p.Leu5464Phe
XM_011538770.2:c.16452G>C	XP_011537072.1:p.Leu5484Phe
XM_011538771.2:c.16449G>C	XP_011537073.1:p.Leu5483Phe
XM_011538772.2:c.16443G>C	XP_011537074.1:p.Leu5481Phe
XM_011538773.2:c.16440G>C	XP_011537075.1:p.Leu5480Phe
XM_011538774.2:c.16431G>C	XP_011537076.1:p.Leu5477Phe
XM_011538776.2:c.16359G>C	XP_011537078.1:p.Leu5453Phe
XR_001748874.1:n.16572G>C
NM_003482.4:c.16395G>C MANE Select	NP_003473.3:p.Leu5465Phe