Canonical Allele Identifier: CA384703423

Gene: KMT2D

Linked Data

• dbSNP Id: rs917419349
• gnomAD v2: 12-49424740-C-G
• gnomAD v4: 12-49030957-C-G
• MyVariant Identifiers: chr12:g.49424740C>G (hg19) ; chr12:g.49030957C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49030957C>G , CM000674.2:g.49030957C>G	GRCh38
NC_000012.11:g.49424740C>G , CM000674.1:g.49424740C>G	GRCh37
NC_000012.10:g.47711007C>G	NCBI36
NG_027827.1:g.29368G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000552391.2:n.307G>C
ENST00000683543.2:c.13607G>C	ENSP00000506726.1:p.Arg4536Pro
ENST00000685166.1:c.13616G>C	ENSP00000509386.1:p.Arg4539Pro
ENST00000685982.1:c.139-189G>C	ENSP00000508613.1:n.139-189G>C
ENST00000691986.1:c.138+218G>C	ENSP00000509196.1:n.138+218G>C
ENST00000692637.1:c.13604G>C	ENSP00000509666.1:p.Arg4535Pro
ENST00000692973.1:c.208G>C	ENSP00000508893.1:n.208G>C
ENST00000301067.12:c.13607G>C MANE Select	ENSP00000301067.7:p.Arg4536Pro
ENST00000301067.11:c.13607G>C	ENSP00000301067.7:p.Arg4536Pro
ENST00000552391.1:n.307G>C
NM_003482.3:c.13607G>C	NP_003473.3:p.Arg4536Pro
XM_005269162.3:c.13607G>C	XP_005269219.1:p.Arg4536Pro
XM_006719614.2:c.13616G>C	XP_006719677.1:p.Arg4539Pro
XM_006719616.2:c.13604G>C	XP_006719679.1:p.Arg4535Pro
XM_011538770.1:c.13616G>C	XP_011537072.1:p.Arg4539Pro
XM_011538771.1:c.13613G>C	XP_011537073.1:p.Arg4538Pro
XM_011538772.1:c.13607G>C	XP_011537074.1:p.Arg4536Pro
XM_011538773.1:c.13604G>C	XP_011537075.1:p.Arg4535Pro
XM_011538774.1:c.13595G>C	XP_011537076.1:p.Arg4532Pro
XM_011538775.1:c.13616G>C	XP_011537077.1:p.Arg4539Pro
XM_011538776.1:c.13523G>C	XP_011537078.1:p.Arg4508Pro
XR_944740.1:n.15936G>C
XM_005269162.4:c.13607G>C	XP_005269219.1:p.Arg4536Pro
XM_006719614.4:c.13616G>C	XP_006719677.1:p.Arg4539Pro
XM_006719616.3:c.13604G>C	XP_006719679.1:p.Arg4535Pro
XM_011538770.2:c.13616G>C	XP_011537072.1:p.Arg4539Pro
XM_011538771.2:c.13613G>C	XP_011537073.1:p.Arg4538Pro
XM_011538772.2:c.13607G>C	XP_011537074.1:p.Arg4536Pro
XM_011538773.2:c.13604G>C	XP_011537075.1:p.Arg4535Pro
XM_011538774.2:c.13595G>C	XP_011537076.1:p.Arg4532Pro
XM_011538776.2:c.13523G>C	XP_011537078.1:p.Arg4508Pro
XR_001748874.1:n.14925G>C
NM_003482.4:c.13607G>C MANE Select	NP_003473.3:p.Arg4536Pro