Canonical Allele Identifier: CA384628338
Gene: KMT2D HGNC NCBI

Linked Data

dbSNP Id: rs1157863753

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49042618G>A , CM000674.2:g.49042618G>A GRCh38
NC_000012.11:g.49436401G>A , CM000674.1:g.49436401G>A GRCh37
NC_000012.10:g.47722668G>A NCBI36
NG_027827.1:g.17707C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650290.2:c.622C>T
ENST00000683543.2:c.5810C>T ENSP00000506726.1:p.Ser1937Phe
ENST00000685166.1:c.5819C>T ENSP00000509386.1:p.Ser1940Phe
ENST00000688095.1:c.1759C>T ENSP00000510007.1:n.1759C>T
ENST00000692637.1:c.5807C>T ENSP00000509666.1:p.Ser1936Phe
ENST00000301067.12:c.5810C>T MANE Select ENSP00000301067.7:p.Ser1937Phe
ENST00000301067.11:c.5810C>T ENSP00000301067.7:p.Ser1937Phe
NM_003482.3:c.5810C>T NP_003473.3:p.Ser1937Phe
XM_005269162.3:c.5810C>T XP_005269219.1:p.Ser1937Phe
XM_006719614.2:c.5819C>T XP_006719677.1:p.Ser1940Phe
XM_006719616.2:c.5807C>T XP_006719679.1:p.Ser1936Phe
XM_011538770.1:c.5819C>T XP_011537072.1:p.Ser1940Phe
XM_011538771.1:c.5816C>T XP_011537073.1:p.Ser1939Phe
XM_011538772.1:c.5810C>T XP_011537074.1:p.Ser1937Phe
XM_011538773.1:c.5807C>T XP_011537075.1:p.Ser1936Phe
XM_011538774.1:c.5819C>T XP_011537076.1:p.Ser1940Phe
XM_011538775.1:c.5819C>T XP_011537077.1:p.Ser1940Phe
XM_011538776.1:c.5819C>T XP_011537078.1:p.Ser1940Phe
XR_944740.1:n.8139C>T
XM_005269162.4:c.5810C>T XP_005269219.1:p.Ser1937Phe
XM_006719614.4:c.5819C>T XP_006719677.1:p.Ser1940Phe
XM_006719616.3:c.5807C>T XP_006719679.1:p.Ser1936Phe
XM_011538770.2:c.5819C>T XP_011537072.1:p.Ser1940Phe
XM_011538771.2:c.5816C>T XP_011537073.1:p.Ser1939Phe
XM_011538772.2:c.5810C>T XP_011537074.1:p.Ser1937Phe
XM_011538773.2:c.5807C>T XP_011537075.1:p.Ser1936Phe
XM_011538774.2:c.5819C>T XP_011537076.1:p.Ser1940Phe
XM_011538776.2:c.5819C>T XP_011537078.1:p.Ser1940Phe
XR_001748874.1:n.7128C>T
NM_003482.4:c.5810C>T MANE Select NP_003473.3:p.Ser1937Phe