Canonical Allele Identifier: CA384677101

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137705128
• MyVariant Identifiers: chr12:g.49416123T>G (hg19) ; chr12:g.49022340T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022340T>G , CM000674.2:g.49022340T>G	GRCh38
NC_000012.11:g.49416123T>G , CM000674.1:g.49416123T>G	GRCh37
NC_000012.10:g.47702390T>G	NCBI36
NG_027827.1:g.37985A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.322A>C
ENST00000681974.1:n.1024A>C
ENST00000682693.1:n.1986A>C
ENST00000682886.1:n.758A>C
ENST00000683543.2:c.16400A>C	ENSP00000506726.1:p.Tyr5467Ser
ENST00000683988.1:c.323A>C	ENSP00000506939.1:p.Tyr108Ser
ENST00000684428.1:c.945A>C	ENSP00000507433.1:p.Leu315=
ENST00000685024.1:c.1506A>C
ENST00000685166.1:c.16361A>C	ENSP00000509386.1:p.Tyr5454Ser
ENST00000691932.1:c.353A>C	ENSP00000509037.1:p.Tyr118Ser
ENST00000692637.1:c.16349A>C	ENSP00000509666.1:p.Tyr5450Ser
ENST00000301067.12:c.16352A>C MANE Select	ENSP00000301067.7:p.Tyr5451Ser
ENST00000301067.11:c.16352A>C	ENSP00000301067.7:p.Tyr5451Ser
ENST00000526209.1:c.395A>C	ENSP00000435714.1:p.Tyr132Ser
NM_003482.3:c.16352A>C	NP_003473.3:p.Tyr5451Ser
XM_005269162.3:c.16352A>C	XP_005269219.1:p.Tyr5451Ser
XM_006719614.2:c.16361A>C	XP_006719677.1:p.Tyr5454Ser
XM_006719616.2:c.16349A>C	XP_006719679.1:p.Tyr5450Ser
XM_011538770.1:c.16409A>C	XP_011537072.1:p.Tyr5470Ser
XM_011538771.1:c.16406A>C	XP_011537073.1:p.Tyr5469Ser
XM_011538772.1:c.16400A>C	XP_011537074.1:p.Tyr5467Ser
XM_011538773.1:c.16397A>C	XP_011537075.1:p.Tyr5466Ser
XM_011538774.1:c.16388A>C	XP_011537076.1:p.Tyr5463Ser
XM_011538775.1:c.16343A>C	XP_011537077.1:p.Tyr5448Ser
XM_011538776.1:c.16316A>C	XP_011537078.1:p.Tyr5439Ser
XM_005269162.4:c.16352A>C	XP_005269219.1:p.Tyr5451Ser
XM_006719614.4:c.16361A>C	XP_006719677.1:p.Tyr5454Ser
XM_006719616.3:c.16349A>C	XP_006719679.1:p.Tyr5450Ser
XM_011538770.2:c.16409A>C	XP_011537072.1:p.Tyr5470Ser
XM_011538771.2:c.16406A>C	XP_011537073.1:p.Tyr5469Ser
XM_011538772.2:c.16400A>C	XP_011537074.1:p.Tyr5467Ser
XM_011538773.2:c.16397A>C	XP_011537075.1:p.Tyr5466Ser
XM_011538774.2:c.16388A>C	XP_011537076.1:p.Tyr5463Ser
XM_011538776.2:c.16316A>C	XP_011537078.1:p.Tyr5439Ser
XR_001748874.1:n.16529A>C
NM_003482.4:c.16352A>C MANE Select	NP_003473.3:p.Tyr5451Ser