Canonical Allele Identifier: CA384676987
Gene: KMT2D HGNC NCBI

Linked Data

dbSNP Id: rs2137705064

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49022326T>A , CM000674.2:g.49022326T>A GRCh38
NC_000012.11:g.49416109T>A , CM000674.1:g.49416109T>A GRCh37
NC_000012.10:g.47702376T>A NCBI36
NG_027827.1:g.37999A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000526209.2:c.336A>T
ENST00000681974.1:n.1038A>T
ENST00000682693.1:n.2000A>T
ENST00000682886.1:n.772A>T
ENST00000683543.2:c.16414A>T ENSP00000506726.1:p.Asn5472Tyr
ENST00000683988.1:c.337A>T ENSP00000506939.1:p.Asn113Tyr
ENST00000684428.1:c.959A>T ENSP00000507433.1:p.Lys320Ile
ENST00000685024.1:c.1520A>T
ENST00000685166.1:c.16375A>T ENSP00000509386.1:p.Asn5459Tyr
ENST00000691932.1:c.367A>T ENSP00000509037.1:p.Asn123Tyr
ENST00000692637.1:c.16363A>T ENSP00000509666.1:p.Asn5455Tyr
ENST00000301067.12:c.16366A>T MANE Select ENSP00000301067.7:p.Asn5456Tyr
ENST00000301067.11:c.16366A>T ENSP00000301067.7:p.Asn5456Tyr
ENST00000526209.1:c.409A>T ENSP00000435714.1:p.Asn137Tyr
NM_003482.3:c.16366A>T NP_003473.3:p.Asn5456Tyr
XM_005269162.3:c.16366A>T XP_005269219.1:p.Asn5456Tyr
XM_006719614.2:c.16375A>T XP_006719677.1:p.Asn5459Tyr
XM_006719616.2:c.16363A>T XP_006719679.1:p.Asn5455Tyr
XM_011538770.1:c.16423A>T XP_011537072.1:p.Asn5475Tyr
XM_011538771.1:c.16420A>T XP_011537073.1:p.Asn5474Tyr
XM_011538772.1:c.16414A>T XP_011537074.1:p.Asn5472Tyr
XM_011538773.1:c.16411A>T XP_011537075.1:p.Asn5471Tyr
XM_011538774.1:c.16402A>T XP_011537076.1:p.Asn5468Tyr
XM_011538775.1:c.16357A>T XP_011537077.1:p.Asn5453Tyr
XM_011538776.1:c.16330A>T XP_011537078.1:p.Asn5444Tyr
XM_005269162.4:c.16366A>T XP_005269219.1:p.Asn5456Tyr
XM_006719614.4:c.16375A>T XP_006719677.1:p.Asn5459Tyr
XM_006719616.3:c.16363A>T XP_006719679.1:p.Asn5455Tyr
XM_011538770.2:c.16423A>T XP_011537072.1:p.Asn5475Tyr
XM_011538771.2:c.16420A>T XP_011537073.1:p.Asn5474Tyr
XM_011538772.2:c.16414A>T XP_011537074.1:p.Asn5472Tyr
XM_011538773.2:c.16411A>T XP_011537075.1:p.Asn5471Tyr
XM_011538774.2:c.16402A>T XP_011537076.1:p.Asn5468Tyr
XM_011538776.2:c.16330A>T XP_011537078.1:p.Asn5444Tyr
XR_001748874.1:n.16543A>T
NM_003482.4:c.16366A>T MANE Select NP_003473.3:p.Asn5456Tyr