Canonical Allele Identifier: CA384675871

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49415866A>G (hg19) ; chr12:g.49022083A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022083A>G , CM000674.2:g.49022083A>G	GRCh38
NC_000012.11:g.49415866A>G , CM000674.1:g.49415866A>G	GRCh37
NC_000012.10:g.47702133A>G	NCBI36
NG_027827.1:g.38242T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.451T>C
ENST00000681974.1:n.1153T>C
ENST00000682693.1:n.2115T>C
ENST00000682886.1:n.887T>C
ENST00000683543.2:c.16529T>C	ENSP00000506726.1:p.Ile5510Thr
ENST00000683988.1:c.452T>C	ENSP00000506939.1:p.Ile151Thr
ENST00000684428.1:c.1074T>C	ENSP00000507433.1:n.1074T>C
ENST00000685024.1:c.1635T>C
ENST00000685166.1:c.16490T>C	ENSP00000509386.1:p.Ile5497Thr
ENST00000691932.1:c.482T>C	ENSP00000509037.1:p.Ile161Thr
ENST00000692637.1:c.16478T>C	ENSP00000509666.1:p.Ile5493Thr
ENST00000301067.12:c.16481T>C MANE Select	ENSP00000301067.7:p.Ile5494Thr
ENST00000301067.11:c.16481T>C	ENSP00000301067.7:p.Ile5494Thr
ENST00000526209.1:c.524T>C	ENSP00000435714.1:p.Ile175Thr
NM_003482.3:c.16481T>C	NP_003473.3:p.Ile5494Thr
XM_005269162.3:c.16481T>C	XP_005269219.1:p.Ile5494Thr
XM_006719614.2:c.16490T>C	XP_006719677.1:p.Ile5497Thr
XM_006719616.2:c.16478T>C	XP_006719679.1:p.Ile5493Thr
XM_011538770.1:c.16538T>C	XP_011537072.1:p.Ile5513Thr
XM_011538771.1:c.16535T>C	XP_011537073.1:p.Ile5512Thr
XM_011538772.1:c.16529T>C	XP_011537074.1:p.Ile5510Thr
XM_011538773.1:c.16526T>C	XP_011537075.1:p.Ile5509Thr
XM_011538774.1:c.16517T>C	XP_011537076.1:p.Ile5506Thr
XM_011538775.1:c.16472T>C	XP_011537077.1:p.Ile5491Thr
XM_011538776.1:c.16445T>C	XP_011537078.1:p.Ile5482Thr
XM_005269162.4:c.16481T>C	XP_005269219.1:p.Ile5494Thr
XM_006719614.4:c.16490T>C	XP_006719677.1:p.Ile5497Thr
XM_006719616.3:c.16478T>C	XP_006719679.1:p.Ile5493Thr
XM_011538770.2:c.16538T>C	XP_011537072.1:p.Ile5513Thr
XM_011538771.2:c.16535T>C	XP_011537073.1:p.Ile5512Thr
XM_011538772.2:c.16529T>C	XP_011537074.1:p.Ile5510Thr
XM_011538773.2:c.16526T>C	XP_011537075.1:p.Ile5509Thr
XM_011538774.2:c.16517T>C	XP_011537076.1:p.Ile5506Thr
XM_011538776.2:c.16445T>C	XP_011537078.1:p.Ile5482Thr
XR_001748874.1:n.16658T>C
NM_003482.4:c.16481T>C MANE Select	NP_003473.3:p.Ile5494Thr