Canonical Allele Identifier: CA384675812

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137703645
• MyVariant Identifiers: chr12:g.49415858T>A (hg19) ; chr12:g.49022075T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022075T>A , CM000674.2:g.49022075T>A	GRCh38
NC_000012.11:g.49415858T>A , CM000674.1:g.49415858T>A	GRCh37
NC_000012.10:g.47702125T>A	NCBI36
NG_027827.1:g.38250A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000526209.2:c.459A>T
ENST00000681974.1:n.1161A>T
ENST00000682693.1:n.2123A>T
ENST00000682886.1:n.895A>T
ENST00000683543.2:c.16537A>T	ENSP00000506726.1:p.Ile5513Phe
ENST00000683988.1:c.460A>T	ENSP00000506939.1:p.Ile154Phe
ENST00000684428.1:c.1082A>T	ENSP00000507433.1:n.1082A>T
ENST00000685024.1:c.1643A>T
ENST00000685166.1:c.16498A>T	ENSP00000509386.1:p.Ile5500Phe
ENST00000691932.1:c.490A>T	ENSP00000509037.1:p.Ile164Phe
ENST00000692637.1:c.16486A>T	ENSP00000509666.1:p.Ile5496Phe
ENST00000301067.12:c.16489A>T MANE Select	ENSP00000301067.7:p.Ile5497Phe
ENST00000301067.11:c.16489A>T	ENSP00000301067.7:p.Ile5497Phe
ENST00000526209.1:c.532A>T	ENSP00000435714.1:p.Ile178Phe
NM_003482.3:c.16489A>T	NP_003473.3:p.Ile5497Phe
XM_005269162.3:c.16489A>T	XP_005269219.1:p.Ile5497Phe
XM_006719614.2:c.16498A>T	XP_006719677.1:p.Ile5500Phe
XM_006719616.2:c.16486A>T	XP_006719679.1:p.Ile5496Phe
XM_011538770.1:c.16546A>T	XP_011537072.1:p.Ile5516Phe
XM_011538771.1:c.16543A>T	XP_011537073.1:p.Ile5515Phe
XM_011538772.1:c.16537A>T	XP_011537074.1:p.Ile5513Phe
XM_011538773.1:c.16534A>T	XP_011537075.1:p.Ile5512Phe
XM_011538774.1:c.16525A>T	XP_011537076.1:p.Ile5509Phe
XM_011538775.1:c.16480A>T	XP_011537077.1:p.Ile5494Phe
XM_011538776.1:c.16453A>T	XP_011537078.1:p.Ile5485Phe
XM_005269162.4:c.16489A>T	XP_005269219.1:p.Ile5497Phe
XM_006719614.4:c.16498A>T	XP_006719677.1:p.Ile5500Phe
XM_006719616.3:c.16486A>T	XP_006719679.1:p.Ile5496Phe
XM_011538770.2:c.16546A>T	XP_011537072.1:p.Ile5516Phe
XM_011538771.2:c.16543A>T	XP_011537073.1:p.Ile5515Phe
XM_011538772.2:c.16537A>T	XP_011537074.1:p.Ile5513Phe
XM_011538773.2:c.16534A>T	XP_011537075.1:p.Ile5512Phe
XM_011538774.2:c.16525A>T	XP_011537076.1:p.Ile5509Phe
XM_011538776.2:c.16453A>T	XP_011537078.1:p.Ile5485Phe
XR_001748874.1:n.16666A>T
NM_003482.4:c.16489A>T MANE Select	NP_003473.3:p.Ile5497Phe