Canonical Allele Identifier: CA384681142

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49418374T>A (hg19) ; chr12:g.49024591T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024591T>A , CM000674.2:g.49024591T>A	GRCh38
NC_000012.11:g.49418374T>A , CM000674.1:g.49418374T>A	GRCh37
NC_000012.10:g.47704641T>A	NCBI36
NG_027827.1:g.35734A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.711A>T
ENST00000683543.2:c.16039A>T	ENSP00000506726.1:p.Thr5347Ser
ENST00000683863.1:n.1754A>T
ENST00000684428.1:c.574A>T	ENSP00000507433.1:p.Thr192Ser
ENST00000684755.1:n.574A>T
ENST00000685024.1:c.1193A>T
ENST00000685166.1:c.16048A>T	ENSP00000509386.1:p.Thr5350Ser
ENST00000688411.1:c.516A>T	ENSP00000510146.1:n.516A>T
ENST00000691932.1:c.118A>T	ENSP00000509037.1:p.Thr40Ser
ENST00000692637.1:c.16036A>T	ENSP00000509666.1:p.Thr5346Ser
ENST00000301067.12:c.16039A>T MANE Select	ENSP00000301067.7:p.Thr5347Ser
ENST00000301067.11:c.16039A>T	ENSP00000301067.7:p.Thr5347Ser
ENST00000526209.1:c.34A>T	ENSP00000435714.1:p.Thr12Ser
NM_003482.3:c.16039A>T	NP_003473.3:p.Thr5347Ser
XM_005269162.3:c.16039A>T	XP_005269219.1:p.Thr5347Ser
XM_006719614.2:c.16048A>T	XP_006719677.1:p.Thr5350Ser
XM_006719616.2:c.16036A>T	XP_006719679.1:p.Thr5346Ser
XM_011538770.1:c.16048A>T	XP_011537072.1:p.Thr5350Ser
XM_011538771.1:c.16045A>T	XP_011537073.1:p.Thr5349Ser
XM_011538772.1:c.16039A>T	XP_011537074.1:p.Thr5347Ser
XM_011538773.1:c.16036A>T	XP_011537075.1:p.Thr5346Ser
XM_011538774.1:c.16027A>T	XP_011537076.1:p.Thr5343Ser
XM_011538775.1:c.15982A>T	XP_011537077.1:p.Thr5328Ser
XM_011538776.1:c.15955A>T	XP_011537078.1:p.Thr5319Ser
XM_005269162.4:c.16039A>T	XP_005269219.1:p.Thr5347Ser
XM_006719614.4:c.16048A>T	XP_006719677.1:p.Thr5350Ser
XM_006719616.3:c.16036A>T	XP_006719679.1:p.Thr5346Ser
XM_011538770.2:c.16048A>T	XP_011537072.1:p.Thr5350Ser
XM_011538771.2:c.16045A>T	XP_011537073.1:p.Thr5349Ser
XM_011538772.2:c.16039A>T	XP_011537074.1:p.Thr5347Ser
XM_011538773.2:c.16036A>T	XP_011537075.1:p.Thr5346Ser
XM_011538774.2:c.16027A>T	XP_011537076.1:p.Thr5343Ser
XM_011538776.2:c.15955A>T	XP_011537078.1:p.Thr5319Ser
XR_001748874.1:n.16216A>T
NM_003482.4:c.16039A>T MANE Select	NP_003473.3:p.Thr5347Ser