Canonical Allele Identifier: CA384675784

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49415855A>G (hg19) ; chr12:g.49022072A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022072A>G , CM000674.2:g.49022072A>G	GRCh38
NC_000012.11:g.49415855A>G , CM000674.1:g.49415855A>G	GRCh37
NC_000012.10:g.47702122A>G	NCBI36
NG_027827.1:g.38253T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.462T>C
ENST00000681974.1:n.1164T>C
ENST00000682693.1:n.2126T>C
ENST00000682886.1:n.898T>C
ENST00000683543.2:c.16540T>C	ENSP00000506726.1:p.Ser5514Pro
ENST00000683988.1:c.463T>C	ENSP00000506939.1:p.Ser155Pro
ENST00000684428.1:c.1085T>C	ENSP00000507433.1:n.1085T>C
ENST00000685024.1:c.1646T>C
ENST00000685166.1:c.16501T>C	ENSP00000509386.1:p.Ser5501Pro
ENST00000691932.1:c.493T>C	ENSP00000509037.1:p.Ser165Pro
ENST00000692637.1:c.16489T>C	ENSP00000509666.1:p.Ser5497Pro
ENST00000301067.12:c.16492T>C MANE Select	ENSP00000301067.7:p.Ser5498Pro
ENST00000301067.11:c.16492T>C	ENSP00000301067.7:p.Ser5498Pro
ENST00000526209.1:c.535T>C	ENSP00000435714.1:p.Ser179Pro
NM_003482.3:c.16492T>C	NP_003473.3:p.Ser5498Pro
XM_005269162.3:c.16492T>C	XP_005269219.1:p.Ser5498Pro
XM_006719614.2:c.16501T>C	XP_006719677.1:p.Ser5501Pro
XM_006719616.2:c.16489T>C	XP_006719679.1:p.Ser5497Pro
XM_011538770.1:c.16549T>C	XP_011537072.1:p.Ser5517Pro
XM_011538771.1:c.16546T>C	XP_011537073.1:p.Ser5516Pro
XM_011538772.1:c.16540T>C	XP_011537074.1:p.Ser5514Pro
XM_011538773.1:c.16537T>C	XP_011537075.1:p.Ser5513Pro
XM_011538774.1:c.16528T>C	XP_011537076.1:p.Ser5510Pro
XM_011538775.1:c.16483T>C	XP_011537077.1:p.Ser5495Pro
XM_011538776.1:c.16456T>C	XP_011537078.1:p.Ser5486Pro
XM_005269162.4:c.16492T>C	XP_005269219.1:p.Ser5498Pro
XM_006719614.4:c.16501T>C	XP_006719677.1:p.Ser5501Pro
XM_006719616.3:c.16489T>C	XP_006719679.1:p.Ser5497Pro
XM_011538770.2:c.16549T>C	XP_011537072.1:p.Ser5517Pro
XM_011538771.2:c.16546T>C	XP_011537073.1:p.Ser5516Pro
XM_011538772.2:c.16540T>C	XP_011537074.1:p.Ser5514Pro
XM_011538773.2:c.16537T>C	XP_011537075.1:p.Ser5513Pro
XM_011538774.2:c.16528T>C	XP_011537076.1:p.Ser5510Pro
XM_011538776.2:c.16456T>C	XP_011537078.1:p.Ser5486Pro
XR_001748874.1:n.16669T>C
NM_003482.4:c.16492T>C MANE Select	NP_003473.3:p.Ser5498Pro