Canonical Allele Identifier: CA384676865
Gene: KMT2D HGNC NCBI

Linked Data

dbSNP Id: rs2137704976

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49022308C>T , CM000674.2:g.49022308C>T GRCh38
NC_000012.11:g.49416091C>T , CM000674.1:g.49416091C>T GRCh37
NC_000012.10:g.47702358C>T NCBI36
NG_027827.1:g.38017G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000526209.2:c.354G>A
ENST00000681974.1:n.1056G>A
ENST00000682693.1:n.2018G>A
ENST00000682886.1:n.790G>A
ENST00000683543.2:c.16432G>A ENSP00000506726.1:p.Asp5478Asn
ENST00000683988.1:c.355G>A ENSP00000506939.1:p.Asp119Asn
ENST00000684428.1:c.977G>A ENSP00000507433.1:n.977G>A
ENST00000685024.1:c.1538G>A
ENST00000685166.1:c.16393G>A ENSP00000509386.1:p.Asp5465Asn
ENST00000691932.1:c.385G>A ENSP00000509037.1:p.Asp129Asn
ENST00000692637.1:c.16381G>A ENSP00000509666.1:p.Asp5461Asn
ENST00000301067.12:c.16384G>A MANE Select ENSP00000301067.7:p.Asp5462Asn
ENST00000301067.11:c.16384G>A ENSP00000301067.7:p.Asp5462Asn
ENST00000526209.1:c.427G>A ENSP00000435714.1:p.Asp143Asn
NM_003482.3:c.16384G>A NP_003473.3:p.Asp5462Asn
XM_005269162.3:c.16384G>A XP_005269219.1:p.Asp5462Asn
XM_006719614.2:c.16393G>A XP_006719677.1:p.Asp5465Asn
XM_006719616.2:c.16381G>A XP_006719679.1:p.Asp5461Asn
XM_011538770.1:c.16441G>A XP_011537072.1:p.Asp5481Asn
XM_011538771.1:c.16438G>A XP_011537073.1:p.Asp5480Asn
XM_011538772.1:c.16432G>A XP_011537074.1:p.Asp5478Asn
XM_011538773.1:c.16429G>A XP_011537075.1:p.Asp5477Asn
XM_011538774.1:c.16420G>A XP_011537076.1:p.Asp5474Asn
XM_011538775.1:c.16375G>A XP_011537077.1:p.Asp5459Asn
XM_011538776.1:c.16348G>A XP_011537078.1:p.Asp5450Asn
XM_005269162.4:c.16384G>A XP_005269219.1:p.Asp5462Asn
XM_006719614.4:c.16393G>A XP_006719677.1:p.Asp5465Asn
XM_006719616.3:c.16381G>A XP_006719679.1:p.Asp5461Asn
XM_011538770.2:c.16441G>A XP_011537072.1:p.Asp5481Asn
XM_011538771.2:c.16438G>A XP_011537073.1:p.Asp5480Asn
XM_011538772.2:c.16432G>A XP_011537074.1:p.Asp5478Asn
XM_011538773.2:c.16429G>A XP_011537075.1:p.Asp5477Asn
XM_011538774.2:c.16420G>A XP_011537076.1:p.Asp5474Asn
XM_011538776.2:c.16348G>A XP_011537078.1:p.Asp5450Asn
XR_001748874.1:n.16561G>A
NM_003482.4:c.16384G>A MANE Select NP_003473.3:p.Asp5462Asn