Canonical Allele Identifier: CA384682436

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137711383
• gnomAD v4: 12-49024820-A-G
• MyVariant Identifiers: chr12:g.49418603A>G (hg19) ; chr12:g.49024820A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024820A>G , CM000674.2:g.49024820A>G	GRCh38
NC_000012.11:g.49418603A>G , CM000674.1:g.49418603A>G	GRCh37
NC_000012.10:g.47704870A>G	NCBI36
NG_027827.1:g.35505T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.583T>C
ENST00000683543.2:c.15911T>C	ENSP00000506726.1:p.Ile5304Thr
ENST00000683863.1:n.1626T>C
ENST00000684428.1:c.446T>C	ENSP00000507433.1:p.Ile149Thr
ENST00000684755.1:n.446T>C
ENST00000685024.1:c.1036T>C
ENST00000685166.1:c.15920T>C	ENSP00000509386.1:p.Ile5307Thr
ENST00000688411.1:c.388T>C	ENSP00000510146.1:n.388T>C
ENST00000691463.1:c.1297T>C	ENSP00000510624.1:n.1297T>C
ENST00000692637.1:c.15908T>C	ENSP00000509666.1:p.Ile5303Thr
ENST00000301067.12:c.15911T>C MANE Select	ENSP00000301067.7:p.Ile5304Thr
ENST00000301067.11:c.15911T>C	ENSP00000301067.7:p.Ile5304Thr
NM_003482.3:c.15911T>C	NP_003473.3:p.Ile5304Thr
XM_005269162.3:c.15911T>C	XP_005269219.1:p.Ile5304Thr
XM_006719614.2:c.15920T>C	XP_006719677.1:p.Ile5307Thr
XM_006719616.2:c.15908T>C	XP_006719679.1:p.Ile5303Thr
XM_011538770.1:c.15920T>C	XP_011537072.1:p.Ile5307Thr
XM_011538771.1:c.15917T>C	XP_011537073.1:p.Ile5306Thr
XM_011538772.1:c.15911T>C	XP_011537074.1:p.Ile5304Thr
XM_011538773.1:c.15908T>C	XP_011537075.1:p.Ile5303Thr
XM_011538774.1:c.15899T>C	XP_011537076.1:p.Ile5300Thr
XM_011538775.1:c.15854T>C	XP_011537077.1:p.Ile5285Thr
XM_011538776.1:c.15827T>C	XP_011537078.1:p.Ile5276Thr
XR_944740.1:n.17099T>C
XM_005269162.4:c.15911T>C	XP_005269219.1:p.Ile5304Thr
XM_006719614.4:c.15920T>C	XP_006719677.1:p.Ile5307Thr
XM_006719616.3:c.15908T>C	XP_006719679.1:p.Ile5303Thr
XM_011538770.2:c.15920T>C	XP_011537072.1:p.Ile5307Thr
XM_011538771.2:c.15917T>C	XP_011537073.1:p.Ile5306Thr
XM_011538772.2:c.15911T>C	XP_011537074.1:p.Ile5304Thr
XM_011538773.2:c.15908T>C	XP_011537075.1:p.Ile5303Thr
XM_011538774.2:c.15899T>C	XP_011537076.1:p.Ile5300Thr
XM_011538776.2:c.15827T>C	XP_011537078.1:p.Ile5276Thr
XR_001748874.1:n.16088T>C
NM_003482.4:c.15911T>C MANE Select	NP_003473.3:p.Ile5304Thr