Canonical Allele Identifier: CA236612954

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49043995A>G , CM000674.2:g.49043995A>G	GRCh38
NC_000012.11:g.49437778A>G , CM000674.1:g.49437778A>G	GRCh37
NC_000012.10:g.47724045A>G	NCBI36
NG_027827.1:g.16330T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.5192T>C MANE Select	NP_003473.3:p.Ile1731Thr
ENST00000301067.12:c.5192T>C MANE Select	ENSP00000301067.7:p.Ile1731Thr
NM_003482.3:c.5192T>C	NP_003473.3:p.Ile1731Thr
ENST00000301067.11:c.5192T>C	ENSP00000301067.7:p.Ile1731Thr
ENST00000650290.1:c.238T>C
ENST00000650290.2:c.4T>C
ENST00000683543.2:c.5192T>C	ENSP00000506726.1:p.Ile1731Thr
ENST00000685166.1:c.5201T>C	ENSP00000509386.1:p.Ile1734Thr
ENST00000688095.1:c.1141T>C	ENSP00000510007.1:n.1141T>C
ENST00000692637.1:c.5189T>C	ENSP00000509666.1:p.Ile1730Thr
XM_005269162.3:c.5192T>C	XP_005269219.1:p.Ile1731Thr
XM_005269162.4:c.5192T>C	XP_005269219.1:p.Ile1731Thr
XM_006719614.2:c.5201T>C	XP_006719677.1:p.Ile1734Thr
XM_006719614.4:c.5201T>C	XP_006719677.1:p.Ile1734Thr
XM_006719616.2:c.5189T>C	XP_006719679.1:p.Ile1730Thr
XM_006719616.3:c.5189T>C	XP_006719679.1:p.Ile1730Thr
XM_011538770.1:c.5201T>C	XP_011537072.1:p.Ile1734Thr
XM_011538770.2:c.5201T>C	XP_011537072.1:p.Ile1734Thr
XM_011538771.1:c.5198T>C	XP_011537073.1:p.Ile1733Thr
XM_011538771.2:c.5198T>C	XP_011537073.1:p.Ile1733Thr
XM_011538772.1:c.5192T>C	XP_011537074.1:p.Ile1731Thr
XM_011538772.2:c.5192T>C	XP_011537074.1:p.Ile1731Thr
XM_011538773.1:c.5189T>C	XP_011537075.1:p.Ile1730Thr
XM_011538773.2:c.5189T>C	XP_011537075.1:p.Ile1730Thr
XM_011538774.1:c.5201T>C	XP_011537076.1:p.Ile1734Thr
XM_011538774.2:c.5201T>C	XP_011537076.1:p.Ile1734Thr
XM_011538775.1:c.5201T>C	XP_011537077.1:p.Ile1734Thr
XM_011538776.1:c.5201T>C	XP_011537078.1:p.Ile1734Thr
XM_011538776.2:c.5201T>C	XP_011537078.1:p.Ile1734Thr
XR_001748874.1:n.6510T>C
XR_944740.1:n.7521T>C