Canonical Allele Identifier: CA384682910

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137711672
• gnomAD v4: 12-49024864-C-G
• MyVariant Identifiers: chr12:g.49418647C>G (hg19) ; chr12:g.49024864C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024864C>G , CM000674.2:g.49024864C>G	GRCh38
NC_000012.11:g.49418647C>G , CM000674.1:g.49418647C>G	GRCh37
NC_000012.10:g.47704914C>G	NCBI36
NG_027827.1:g.35461G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.539G>C
ENST00000683543.2:c.15867G>C	ENSP00000506726.1:p.Lys5289Asn
ENST00000683863.1:n.1582G>C
ENST00000684428.1:c.402G>C	ENSP00000507433.1:p.Lys134Asn
ENST00000684755.1:n.402G>C
ENST00000685024.1:c.992G>C
ENST00000685166.1:c.15876G>C	ENSP00000509386.1:p.Lys5292Asn
ENST00000688411.1:c.344G>C	ENSP00000510146.1:n.344G>C
ENST00000691463.1:c.1253G>C	ENSP00000510624.1:n.1253G>C
ENST00000692637.1:c.15864G>C	ENSP00000509666.1:p.Lys5288Asn
ENST00000301067.12:c.15867G>C MANE Select	ENSP00000301067.7:p.Lys5289Asn
ENST00000301067.11:c.15867G>C	ENSP00000301067.7:p.Lys5289Asn
NM_003482.3:c.15867G>C	NP_003473.3:p.Lys5289Asn
XM_005269162.3:c.15867G>C	XP_005269219.1:p.Lys5289Asn
XM_006719614.2:c.15876G>C	XP_006719677.1:p.Lys5292Asn
XM_006719616.2:c.15864G>C	XP_006719679.1:p.Lys5288Asn
XM_011538770.1:c.15876G>C	XP_011537072.1:p.Lys5292Asn
XM_011538771.1:c.15873G>C	XP_011537073.1:p.Lys5291Asn
XM_011538772.1:c.15867G>C	XP_011537074.1:p.Lys5289Asn
XM_011538773.1:c.15864G>C	XP_011537075.1:p.Lys5288Asn
XM_011538774.1:c.15855G>C	XP_011537076.1:p.Lys5285Asn
XM_011538775.1:c.15810G>C	XP_011537077.1:p.Lys5270Asn
XM_011538776.1:c.15783G>C	XP_011537078.1:p.Lys5261Asn
XR_944740.1:n.17055G>C
XM_005269162.4:c.15867G>C	XP_005269219.1:p.Lys5289Asn
XM_006719614.4:c.15876G>C	XP_006719677.1:p.Lys5292Asn
XM_006719616.3:c.15864G>C	XP_006719679.1:p.Lys5288Asn
XM_011538770.2:c.15876G>C	XP_011537072.1:p.Lys5292Asn
XM_011538771.2:c.15873G>C	XP_011537073.1:p.Lys5291Asn
XM_011538772.2:c.15867G>C	XP_011537074.1:p.Lys5289Asn
XM_011538773.2:c.15864G>C	XP_011537075.1:p.Lys5288Asn
XM_011538774.2:c.15855G>C	XP_011537076.1:p.Lys5285Asn
XM_011538776.2:c.15783G>C	XP_011537078.1:p.Lys5261Asn
XR_001748874.1:n.16044G>C
NM_003482.4:c.15867G>C MANE Select	NP_003473.3:p.Lys5289Asn