Canonical Allele Identifier: CA384675828

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49415860A>G (hg19) ; chr12:g.49022077A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022077A>G , CM000674.2:g.49022077A>G	GRCh38
NC_000012.11:g.49415860A>G , CM000674.1:g.49415860A>G	GRCh37
NC_000012.10:g.47702127A>G	NCBI36
NG_027827.1:g.38248T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.457T>C
ENST00000681974.1:n.1159T>C
ENST00000682693.1:n.2121T>C
ENST00000682886.1:n.893T>C
ENST00000683543.2:c.16535T>C	ENSP00000506726.1:p.Ile5512Thr
ENST00000683988.1:c.458T>C	ENSP00000506939.1:p.Ile153Thr
ENST00000684428.1:c.1080T>C	ENSP00000507433.1:n.1080T>C
ENST00000685024.1:c.1641T>C
ENST00000685166.1:c.16496T>C	ENSP00000509386.1:p.Ile5499Thr
ENST00000691932.1:c.488T>C	ENSP00000509037.1:p.Ile163Thr
ENST00000692637.1:c.16484T>C	ENSP00000509666.1:p.Ile5495Thr
ENST00000301067.12:c.16487T>C MANE Select	ENSP00000301067.7:p.Ile5496Thr
ENST00000301067.11:c.16487T>C	ENSP00000301067.7:p.Ile5496Thr
ENST00000526209.1:c.530T>C	ENSP00000435714.1:p.Ile177Thr
NM_003482.3:c.16487T>C	NP_003473.3:p.Ile5496Thr
XM_005269162.3:c.16487T>C	XP_005269219.1:p.Ile5496Thr
XM_006719614.2:c.16496T>C	XP_006719677.1:p.Ile5499Thr
XM_006719616.2:c.16484T>C	XP_006719679.1:p.Ile5495Thr
XM_011538770.1:c.16544T>C	XP_011537072.1:p.Ile5515Thr
XM_011538771.1:c.16541T>C	XP_011537073.1:p.Ile5514Thr
XM_011538772.1:c.16535T>C	XP_011537074.1:p.Ile5512Thr
XM_011538773.1:c.16532T>C	XP_011537075.1:p.Ile5511Thr
XM_011538774.1:c.16523T>C	XP_011537076.1:p.Ile5508Thr
XM_011538775.1:c.16478T>C	XP_011537077.1:p.Ile5493Thr
XM_011538776.1:c.16451T>C	XP_011537078.1:p.Ile5484Thr
XM_005269162.4:c.16487T>C	XP_005269219.1:p.Ile5496Thr
XM_006719614.4:c.16496T>C	XP_006719677.1:p.Ile5499Thr
XM_006719616.3:c.16484T>C	XP_006719679.1:p.Ile5495Thr
XM_011538770.2:c.16544T>C	XP_011537072.1:p.Ile5515Thr
XM_011538771.2:c.16541T>C	XP_011537073.1:p.Ile5514Thr
XM_011538772.2:c.16535T>C	XP_011537074.1:p.Ile5512Thr
XM_011538773.2:c.16532T>C	XP_011537075.1:p.Ile5511Thr
XM_011538774.2:c.16523T>C	XP_011537076.1:p.Ile5508Thr
XM_011538776.2:c.16451T>C	XP_011537078.1:p.Ile5484Thr
XR_001748874.1:n.16664T>C
NM_003482.4:c.16487T>C MANE Select	NP_003473.3:p.Ile5496Thr