Canonical Allele Identifier: CA2618609694

Gene: KMT2D

Linked Data

• gnomAD v4: 12-49042493-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49042493A>G , CM000674.2:g.49042493A>G	GRCh38
NC_000012.11:g.49436276A>G , CM000674.1:g.49436276A>G	GRCh37
NC_000012.10:g.47722543A>G	NCBI36
NG_027827.1:g.17832T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000650290.2:c.679+68T>C
ENST00000683543.2:c.5867+68T>C	ENSP00000506726.1:n.5867+68T>C
ENST00000685166.1:c.5876+68T>C	ENSP00000509386.1:n.5876+68T>C
ENST00000692637.1:c.5864+68T>C	ENSP00000509666.1:n.5864+68T>C
ENST00000301067.12:c.5867+68T>C MANE Select	ENSP00000301067.7:n.5867+68T>C
ENST00000301067.11:c.5867+68T>C	ENSP00000301067.7:n.5867+68T>C
NM_003482.3:c.5867+68T>C	NP_003473.3:n.5867+68T>C
XM_005269162.3:c.5867+68T>C	XP_005269219.1:n.5867+68T>C
XM_006719614.2:c.5876+68T>C	XP_006719677.1:n.5876+68T>C
XM_006719616.2:c.5864+68T>C	XP_006719679.1:n.5864+68T>C
XM_011538770.1:c.5876+68T>C	XP_011537072.1:n.5876+68T>C
XM_011538771.1:c.5873+68T>C	XP_011537073.1:n.5873+68T>C
XM_011538772.1:c.5867+68T>C	XP_011537074.1:n.5867+68T>C
XM_011538773.1:c.5864+68T>C	XP_011537075.1:n.5864+68T>C
XM_011538774.1:c.5876+68T>C	XP_011537076.1:n.5876+68T>C
XM_011538775.1:c.5876+68T>C	XP_011537077.1:n.5876+68T>C
XM_011538776.1:c.5876+68T>C	XP_011537078.1:n.5876+68T>C
XR_944740.1:n.8196+68T>C
XM_005269162.4:c.5867+68T>C	XP_005269219.1:n.5867+68T>C
XM_006719614.4:c.5876+68T>C	XP_006719677.1:n.5876+68T>C
XM_006719616.3:c.5864+68T>C	XP_006719679.1:n.5864+68T>C
XM_011538770.2:c.5876+68T>C	XP_011537072.1:n.5876+68T>C
XM_011538771.2:c.5873+68T>C	XP_011537073.1:n.5873+68T>C
XM_011538772.2:c.5867+68T>C	XP_011537074.1:n.5867+68T>C
XM_011538773.2:c.5864+68T>C	XP_011537075.1:n.5864+68T>C
XM_011538774.2:c.5876+68T>C	XP_011537076.1:n.5876+68T>C
XM_011538776.2:c.5876+68T>C	XP_011537078.1:n.5876+68T>C
XR_001748874.1:n.7185+68T>C
NM_003482.4:c.5867+68T>C MANE Select	NP_003473.3:n.5867+68T>C