Canonical Allele Identifier: CA384677322

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137706128
• MyVariant Identifiers: chr12:g.49416374T>A (hg19) ; chr12:g.49022591T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022591T>A , CM000674.2:g.49022591T>A	GRCh38
NC_000012.11:g.49416374T>A , CM000674.1:g.49416374T>A	GRCh37
NC_000012.10:g.47702641T>A	NCBI36
NG_027827.1:g.37734A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.307A>T
ENST00000681974.1:n.1009A>T
ENST00000682693.1:n.1971A>T
ENST00000682886.1:n.507A>T
ENST00000683543.2:c.16385A>T	ENSP00000506726.1:p.Gln5462Leu
ENST00000683988.1:c.308A>T	ENSP00000506939.1:p.Gln103Leu
ENST00000684428.1:c.872A>T	ENSP00000507433.1:p.Gln291Leu
ENST00000684755.1:n.920A>T
ENST00000685024.1:c.1491A>T
ENST00000685166.1:c.16346A>T	ENSP00000509386.1:p.Gln5449Leu
ENST00000688411.1:c.814A>T	ENSP00000510146.1:n.814A>T
ENST00000691932.1:c.338A>T	ENSP00000509037.1:p.Gln113Leu
ENST00000692637.1:c.16334A>T	ENSP00000509666.1:p.Gln5445Leu
ENST00000301067.12:c.16337A>T MANE Select	ENSP00000301067.7:p.Gln5446Leu
ENST00000301067.11:c.16337A>T	ENSP00000301067.7:p.Gln5446Leu
ENST00000526209.1:c.380A>T	ENSP00000435714.1:p.Gln127Leu
NM_003482.3:c.16337A>T	NP_003473.3:p.Gln5446Leu
XM_005269162.3:c.16337A>T	XP_005269219.1:p.Gln5446Leu
XM_006719614.2:c.16346A>T	XP_006719677.1:p.Gln5449Leu
XM_006719616.2:c.16334A>T	XP_006719679.1:p.Gln5445Leu
XM_011538770.1:c.16394A>T	XP_011537072.1:p.Gln5465Leu
XM_011538771.1:c.16391A>T	XP_011537073.1:p.Gln5464Leu
XM_011538772.1:c.16385A>T	XP_011537074.1:p.Gln5462Leu
XM_011538773.1:c.16382A>T	XP_011537075.1:p.Gln5461Leu
XM_011538774.1:c.16373A>T	XP_011537076.1:p.Gln5458Leu
XM_011538775.1:c.16328A>T	XP_011537077.1:p.Gln5443Leu
XM_011538776.1:c.16301A>T	XP_011537078.1:p.Gln5434Leu
XM_005269162.4:c.16337A>T	XP_005269219.1:p.Gln5446Leu
XM_006719614.4:c.16346A>T	XP_006719677.1:p.Gln5449Leu
XM_006719616.3:c.16334A>T	XP_006719679.1:p.Gln5445Leu
XM_011538770.2:c.16394A>T	XP_011537072.1:p.Gln5465Leu
XM_011538771.2:c.16391A>T	XP_011537073.1:p.Gln5464Leu
XM_011538772.2:c.16385A>T	XP_011537074.1:p.Gln5462Leu
XM_011538773.2:c.16382A>T	XP_011537075.1:p.Gln5461Leu
XM_011538774.2:c.16373A>T	XP_011537076.1:p.Gln5458Leu
XM_011538776.2:c.16301A>T	XP_011537078.1:p.Gln5434Leu
XR_001748874.1:n.16514A>T
NM_003482.4:c.16337A>T MANE Select	NP_003473.3:p.Gln5446Leu