Canonical Allele Identifier: CA384683120

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137711776
• COSMIC: COSM4622636 ; COSM4622637
• MyVariant Identifiers: chr12:g.49418664A>G (hg19) ; chr12:g.49024881A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024881A>G , CM000674.2:g.49024881A>G	GRCh38
NC_000012.11:g.49418664A>G , CM000674.1:g.49418664A>G	GRCh37
NC_000012.10:g.47704931A>G	NCBI36
NG_027827.1:g.35444T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.522T>C
ENST00000683543.2:c.15850T>C	ENSP00000506726.1:p.Phe5284Leu
ENST00000683863.1:n.1565T>C
ENST00000684428.1:c.385T>C	ENSP00000507433.1:p.Phe129Leu
ENST00000684755.1:n.385T>C
ENST00000685024.1:c.975T>C
ENST00000685166.1:c.15859T>C	ENSP00000509386.1:p.Phe5287Leu
ENST00000688411.1:c.327T>C	ENSP00000510146.1:n.327T>C
ENST00000691463.1:c.1236T>C	ENSP00000510624.1:n.1236T>C
ENST00000692637.1:c.15847T>C	ENSP00000509666.1:p.Phe5283Leu
ENST00000301067.12:c.15850T>C MANE Select	ENSP00000301067.7:p.Phe5284Leu
ENST00000301067.11:c.15850T>C	ENSP00000301067.7:p.Phe5284Leu
NM_003482.3:c.15850T>C	NP_003473.3:p.Phe5284Leu
XM_005269162.3:c.15850T>C	XP_005269219.1:p.Phe5284Leu
XM_006719614.2:c.15859T>C	XP_006719677.1:p.Phe5287Leu
XM_006719616.2:c.15847T>C	XP_006719679.1:p.Phe5283Leu
XM_011538770.1:c.15859T>C	XP_011537072.1:p.Phe5287Leu
XM_011538771.1:c.15856T>C	XP_011537073.1:p.Phe5286Leu
XM_011538772.1:c.15850T>C	XP_011537074.1:p.Phe5284Leu
XM_011538773.1:c.15847T>C	XP_011537075.1:p.Phe5283Leu
XM_011538774.1:c.15838T>C	XP_011537076.1:p.Phe5280Leu
XM_011538775.1:c.15793T>C	XP_011537077.1:p.Phe5265Leu
XM_011538776.1:c.15766T>C	XP_011537078.1:p.Phe5256Leu
XR_944740.1:n.17038T>C
XM_005269162.4:c.15850T>C	XP_005269219.1:p.Phe5284Leu
XM_006719614.4:c.15859T>C	XP_006719677.1:p.Phe5287Leu
XM_006719616.3:c.15847T>C	XP_006719679.1:p.Phe5283Leu
XM_011538770.2:c.15859T>C	XP_011537072.1:p.Phe5287Leu
XM_011538771.2:c.15856T>C	XP_011537073.1:p.Phe5286Leu
XM_011538772.2:c.15850T>C	XP_011537074.1:p.Phe5284Leu
XM_011538773.2:c.15847T>C	XP_011537075.1:p.Phe5283Leu
XM_011538774.2:c.15838T>C	XP_011537076.1:p.Phe5280Leu
XM_011538776.2:c.15766T>C	XP_011537078.1:p.Phe5256Leu
XR_001748874.1:n.16027T>C
NM_003482.4:c.15850T>C MANE Select	NP_003473.3:p.Phe5284Leu