Canonical Allele Identifier: CA384677412

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137706219
• MyVariant Identifiers: chr12:g.49416387T>A (hg19) ; chr12:g.49022604T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022604T>A , CM000674.2:g.49022604T>A	GRCh38
NC_000012.11:g.49416387T>A , CM000674.1:g.49416387T>A	GRCh37
NC_000012.10:g.47702654T>A	NCBI36
NG_027827.1:g.37721A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.294A>T
ENST00000681974.1:n.996A>T
ENST00000682693.1:n.1958A>T
ENST00000682886.1:n.494A>T
ENST00000683543.2:c.16372A>T	ENSP00000506726.1:p.Ile5458Phe
ENST00000683988.1:c.295A>T	ENSP00000506939.1:p.Ile99Phe
ENST00000684428.1:c.859A>T	ENSP00000507433.1:p.Ile287Phe
ENST00000684755.1:n.907A>T
ENST00000685024.1:c.1478A>T
ENST00000685166.1:c.16333A>T	ENSP00000509386.1:p.Ile5445Phe
ENST00000688411.1:c.801A>T	ENSP00000510146.1:n.801A>T
ENST00000691932.1:c.325A>T	ENSP00000509037.1:p.Ile109Phe
ENST00000692637.1:c.16321A>T	ENSP00000509666.1:p.Ile5441Phe
ENST00000301067.12:c.16324A>T MANE Select	ENSP00000301067.7:p.Ile5442Phe
ENST00000301067.11:c.16324A>T	ENSP00000301067.7:p.Ile5442Phe
ENST00000526209.1:c.367A>T	ENSP00000435714.1:p.Ile123Phe
NM_003482.3:c.16324A>T	NP_003473.3:p.Ile5442Phe
XM_005269162.3:c.16324A>T	XP_005269219.1:p.Ile5442Phe
XM_006719614.2:c.16333A>T	XP_006719677.1:p.Ile5445Phe
XM_006719616.2:c.16321A>T	XP_006719679.1:p.Ile5441Phe
XM_011538770.1:c.16381A>T	XP_011537072.1:p.Ile5461Phe
XM_011538771.1:c.16378A>T	XP_011537073.1:p.Ile5460Phe
XM_011538772.1:c.16372A>T	XP_011537074.1:p.Ile5458Phe
XM_011538773.1:c.16369A>T	XP_011537075.1:p.Ile5457Phe
XM_011538774.1:c.16360A>T	XP_011537076.1:p.Ile5454Phe
XM_011538775.1:c.16315A>T	XP_011537077.1:p.Ile5439Phe
XM_011538776.1:c.16288A>T	XP_011537078.1:p.Ile5430Phe
XM_005269162.4:c.16324A>T	XP_005269219.1:p.Ile5442Phe
XM_006719614.4:c.16333A>T	XP_006719677.1:p.Ile5445Phe
XM_006719616.3:c.16321A>T	XP_006719679.1:p.Ile5441Phe
XM_011538770.2:c.16381A>T	XP_011537072.1:p.Ile5461Phe
XM_011538771.2:c.16378A>T	XP_011537073.1:p.Ile5460Phe
XM_011538772.2:c.16372A>T	XP_011537074.1:p.Ile5458Phe
XM_011538773.2:c.16369A>T	XP_011537075.1:p.Ile5457Phe
XM_011538774.2:c.16360A>T	XP_011537076.1:p.Ile5454Phe
XM_011538776.2:c.16288A>T	XP_011537078.1:p.Ile5430Phe
XR_001748874.1:n.16501A>T
NM_003482.4:c.16324A>T MANE Select	NP_003473.3:p.Ile5442Phe