Canonical Allele Identifier: CA384677654

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49416423T>A (hg19) ; chr12:g.49022640T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022640T>A , CM000674.2:g.49022640T>A	GRCh38
NC_000012.11:g.49416423T>A , CM000674.1:g.49416423T>A	GRCh37
NC_000012.10:g.47702690T>A	NCBI36
NG_027827.1:g.37685A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.258A>T
ENST00000681974.1:n.960A>T
ENST00000682693.1:n.1922A>T
ENST00000682886.1:n.458A>T
ENST00000683543.2:c.16336A>T	ENSP00000506726.1:p.Ile5446Phe
ENST00000683988.1:c.259A>T	ENSP00000506939.1:p.Ile87Phe
ENST00000684428.1:c.823A>T	ENSP00000507433.1:p.Ile275Phe
ENST00000684755.1:n.871A>T
ENST00000685024.1:c.1442A>T
ENST00000685166.1:c.16297A>T	ENSP00000509386.1:p.Ile5433Phe
ENST00000688411.1:c.765A>T	ENSP00000510146.1:n.765A>T
ENST00000691932.1:c.289A>T	ENSP00000509037.1:p.Ile97Phe
ENST00000692637.1:c.16285A>T	ENSP00000509666.1:p.Ile5429Phe
ENST00000301067.12:c.16288A>T MANE Select	ENSP00000301067.7:p.Ile5430Phe
ENST00000301067.11:c.16288A>T	ENSP00000301067.7:p.Ile5430Phe
ENST00000526209.1:c.331A>T	ENSP00000435714.1:p.Ile111Phe
NM_003482.3:c.16288A>T	NP_003473.3:p.Ile5430Phe
XM_005269162.3:c.16288A>T	XP_005269219.1:p.Ile5430Phe
XM_006719614.2:c.16297A>T	XP_006719677.1:p.Ile5433Phe
XM_006719616.2:c.16285A>T	XP_006719679.1:p.Ile5429Phe
XM_011538770.1:c.16345A>T	XP_011537072.1:p.Ile5449Phe
XM_011538771.1:c.16342A>T	XP_011537073.1:p.Ile5448Phe
XM_011538772.1:c.16336A>T	XP_011537074.1:p.Ile5446Phe
XM_011538773.1:c.16333A>T	XP_011537075.1:p.Ile5445Phe
XM_011538774.1:c.16324A>T	XP_011537076.1:p.Ile5442Phe
XM_011538775.1:c.16279A>T	XP_011537077.1:p.Ile5427Phe
XM_011538776.1:c.16252A>T	XP_011537078.1:p.Ile5418Phe
XM_005269162.4:c.16288A>T	XP_005269219.1:p.Ile5430Phe
XM_006719614.4:c.16297A>T	XP_006719677.1:p.Ile5433Phe
XM_006719616.3:c.16285A>T	XP_006719679.1:p.Ile5429Phe
XM_011538770.2:c.16345A>T	XP_011537072.1:p.Ile5449Phe
XM_011538771.2:c.16342A>T	XP_011537073.1:p.Ile5448Phe
XM_011538772.2:c.16336A>T	XP_011537074.1:p.Ile5446Phe
XM_011538773.2:c.16333A>T	XP_011537075.1:p.Ile5445Phe
XM_011538774.2:c.16324A>T	XP_011537076.1:p.Ile5442Phe
XM_011538776.2:c.16252A>T	XP_011537078.1:p.Ile5418Phe
XR_001748874.1:n.16465A>T
NM_003482.4:c.16288A>T MANE Select	NP_003473.3:p.Ile5430Phe