Canonical Allele Identifier: CA384675928

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49415874C>A (hg19) ; chr12:g.49022091C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022091C>A , CM000674.2:g.49022091C>A	GRCh38
NC_000012.11:g.49415874C>A , CM000674.1:g.49415874C>A	GRCh37
NC_000012.10:g.47702141C>A	NCBI36
NG_027827.1:g.38234G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.443G>T
ENST00000681974.1:n.1145G>T
ENST00000682693.1:n.2107G>T
ENST00000682886.1:n.879G>T
ENST00000683543.2:c.16521G>T	ENSP00000506726.1:p.Glu5507Asp
ENST00000683988.1:c.444G>T	ENSP00000506939.1:p.Glu148Asp
ENST00000684428.1:c.1066G>T	ENSP00000507433.1:n.1066G>T
ENST00000685024.1:c.1627G>T
ENST00000685166.1:c.16482G>T	ENSP00000509386.1:p.Glu5494Asp
ENST00000691932.1:c.474G>T	ENSP00000509037.1:p.Glu158Asp
ENST00000692637.1:c.16470G>T	ENSP00000509666.1:p.Glu5490Asp
ENST00000301067.12:c.16473G>T MANE Select	ENSP00000301067.7:p.Glu5491Asp
ENST00000301067.11:c.16473G>T	ENSP00000301067.7:p.Glu5491Asp
ENST00000526209.1:c.516G>T	ENSP00000435714.1:p.Glu172Asp
NM_003482.3:c.16473G>T	NP_003473.3:p.Glu5491Asp
XM_005269162.3:c.16473G>T	XP_005269219.1:p.Glu5491Asp
XM_006719614.2:c.16482G>T	XP_006719677.1:p.Glu5494Asp
XM_006719616.2:c.16470G>T	XP_006719679.1:p.Glu5490Asp
XM_011538770.1:c.16530G>T	XP_011537072.1:p.Glu5510Asp
XM_011538771.1:c.16527G>T	XP_011537073.1:p.Glu5509Asp
XM_011538772.1:c.16521G>T	XP_011537074.1:p.Glu5507Asp
XM_011538773.1:c.16518G>T	XP_011537075.1:p.Glu5506Asp
XM_011538774.1:c.16509G>T	XP_011537076.1:p.Glu5503Asp
XM_011538775.1:c.16464G>T	XP_011537077.1:p.Glu5488Asp
XM_011538776.1:c.16437G>T	XP_011537078.1:p.Glu5479Asp
XM_005269162.4:c.16473G>T	XP_005269219.1:p.Glu5491Asp
XM_006719614.4:c.16482G>T	XP_006719677.1:p.Glu5494Asp
XM_006719616.3:c.16470G>T	XP_006719679.1:p.Glu5490Asp
XM_011538770.2:c.16530G>T	XP_011537072.1:p.Glu5510Asp
XM_011538771.2:c.16527G>T	XP_011537073.1:p.Glu5509Asp
XM_011538772.2:c.16521G>T	XP_011537074.1:p.Glu5507Asp
XM_011538773.2:c.16518G>T	XP_011537075.1:p.Glu5506Asp
XM_011538774.2:c.16509G>T	XP_011537076.1:p.Glu5503Asp
XM_011538776.2:c.16437G>T	XP_011537078.1:p.Glu5479Asp
XR_001748874.1:n.16650G>T
NM_003482.4:c.16473G>T MANE Select	NP_003473.3:p.Glu5491Asp