Canonical Allele Identifier: CA384676374

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137704000
• MyVariant Identifiers: chr12:g.49415915C>T (hg19) ; chr12:g.49022132C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022132C>T , CM000674.2:g.49022132C>T	GRCh38
NC_000012.11:g.49415915C>T , CM000674.1:g.49415915C>T	GRCh37
NC_000012.10:g.47702182C>T	NCBI36
NG_027827.1:g.38193G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.402G>A
ENST00000681974.1:n.1104G>A
ENST00000682693.1:n.2066G>A
ENST00000682886.1:n.838G>A
ENST00000683543.2:c.16480G>A	ENSP00000506726.1:p.Ala5494Thr
ENST00000683988.1:c.403G>A	ENSP00000506939.1:p.Ala135Thr
ENST00000684428.1:c.1025G>A	ENSP00000507433.1:n.1025G>A
ENST00000685024.1:c.1586G>A
ENST00000685166.1:c.16441G>A	ENSP00000509386.1:p.Ala5481Thr
ENST00000691932.1:c.433G>A	ENSP00000509037.1:p.Ala145Thr
ENST00000692637.1:c.16429G>A	ENSP00000509666.1:p.Ala5477Thr
ENST00000301067.12:c.16432G>A MANE Select	ENSP00000301067.7:p.Ala5478Thr
ENST00000301067.11:c.16432G>A	ENSP00000301067.7:p.Ala5478Thr
ENST00000526209.1:c.475G>A	ENSP00000435714.1:p.Ala159Thr
NM_003482.3:c.16432G>A	NP_003473.3:p.Ala5478Thr
XM_005269162.3:c.16432G>A	XP_005269219.1:p.Ala5478Thr
XM_006719614.2:c.16441G>A	XP_006719677.1:p.Ala5481Thr
XM_006719616.2:c.16429G>A	XP_006719679.1:p.Ala5477Thr
XM_011538770.1:c.16489G>A	XP_011537072.1:p.Ala5497Thr
XM_011538771.1:c.16486G>A	XP_011537073.1:p.Ala5496Thr
XM_011538772.1:c.16480G>A	XP_011537074.1:p.Ala5494Thr
XM_011538773.1:c.16477G>A	XP_011537075.1:p.Ala5493Thr
XM_011538774.1:c.16468G>A	XP_011537076.1:p.Ala5490Thr
XM_011538775.1:c.16423G>A	XP_011537077.1:p.Ala5475Thr
XM_011538776.1:c.16396G>A	XP_011537078.1:p.Ala5466Thr
XM_005269162.4:c.16432G>A	XP_005269219.1:p.Ala5478Thr
XM_006719614.4:c.16441G>A	XP_006719677.1:p.Ala5481Thr
XM_006719616.3:c.16429G>A	XP_006719679.1:p.Ala5477Thr
XM_011538770.2:c.16489G>A	XP_011537072.1:p.Ala5497Thr
XM_011538771.2:c.16486G>A	XP_011537073.1:p.Ala5496Thr
XM_011538772.2:c.16480G>A	XP_011537074.1:p.Ala5494Thr
XM_011538773.2:c.16477G>A	XP_011537075.1:p.Ala5493Thr
XM_011538774.2:c.16468G>A	XP_011537076.1:p.Ala5490Thr
XM_011538776.2:c.16396G>A	XP_011537078.1:p.Ala5466Thr
XR_001748874.1:n.16609G>A
NM_003482.4:c.16432G>A MANE Select	NP_003473.3:p.Ala5478Thr