Canonical Allele Identifier: CA384743411

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49433254C>A (hg19) ; chr12:g.49039471C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039471C>A , CM000674.2:g.49039471C>A	GRCh38
NC_000012.11:g.49433254C>A , CM000674.1:g.49433254C>A	GRCh37
NC_000012.10:g.47719521C>A	NCBI36
NG_027827.1:g.20854G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.8193G>T	ENSP00000506726.1:p.Gln2731His
ENST00000685166.1:c.8202G>T	ENSP00000509386.1:p.Gln2734His
ENST00000689060.1:c.2212G>T
ENST00000689143.1:c.1866G>T	ENSP00000509839.1:p.Gln622His
ENST00000689944.1:c.2302G>T
ENST00000692637.1:c.8190G>T	ENSP00000509666.1:p.Gln2730His
ENST00000301067.12:c.8193G>T MANE Select	ENSP00000301067.7:p.Gln2731His
ENST00000301067.11:c.8193G>T	ENSP00000301067.7:p.Gln2731His
NM_003482.3:c.8193G>T	NP_003473.3:p.Gln2731His
XM_005269162.3:c.8193G>T	XP_005269219.1:p.Gln2731His
XM_006719614.2:c.8202G>T	XP_006719677.1:p.Gln2734His
XM_006719616.2:c.8190G>T	XP_006719679.1:p.Gln2730His
XM_011538770.1:c.8202G>T	XP_011537072.1:p.Gln2734His
XM_011538771.1:c.8199G>T	XP_011537073.1:p.Gln2733His
XM_011538772.1:c.8193G>T	XP_011537074.1:p.Gln2731His
XM_011538773.1:c.8190G>T	XP_011537075.1:p.Gln2730His
XM_011538774.1:c.8181G>T	XP_011537076.1:p.Gln2727His
XM_011538775.1:c.8202G>T	XP_011537077.1:p.Gln2734His
XM_011538776.1:c.8109G>T	XP_011537078.1:p.Gln2703His
XR_944740.1:n.10522G>T
XM_005269162.4:c.8193G>T	XP_005269219.1:p.Gln2731His
XM_006719614.4:c.8202G>T	XP_006719677.1:p.Gln2734His
XM_006719616.3:c.8190G>T	XP_006719679.1:p.Gln2730His
XM_011538770.2:c.8202G>T	XP_011537072.1:p.Gln2734His
XM_011538771.2:c.8199G>T	XP_011537073.1:p.Gln2733His
XM_011538772.2:c.8193G>T	XP_011537074.1:p.Gln2731His
XM_011538773.2:c.8190G>T	XP_011537075.1:p.Gln2730His
XM_011538774.2:c.8181G>T	XP_011537076.1:p.Gln2727His
XM_011538776.2:c.8109G>T	XP_011537078.1:p.Gln2703His
XR_001748874.1:n.9511G>T
NM_003482.4:c.8193G>T MANE Select	NP_003473.3:p.Gln2731His