Canonical Allele Identifier: CA384682889

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137711652
• gnomAD v4: 12-49024862-C-A
• MyVariant Identifiers: chr12:g.49418645C>A (hg19) ; chr12:g.49024862C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024862C>A , CM000674.2:g.49024862C>A	GRCh38
NC_000012.11:g.49418645C>A , CM000674.1:g.49418645C>A	GRCh37
NC_000012.10:g.47704912C>A	NCBI36
NG_027827.1:g.35463G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.541G>T
ENST00000683543.2:c.15869G>T	ENSP00000506726.1:p.Gly5290Val
ENST00000683863.1:n.1584G>T
ENST00000684428.1:c.404G>T	ENSP00000507433.1:p.Gly135Val
ENST00000684755.1:n.404G>T
ENST00000685024.1:c.994G>T
ENST00000685166.1:c.15878G>T	ENSP00000509386.1:p.Gly5293Val
ENST00000688411.1:c.346G>T	ENSP00000510146.1:n.346G>T
ENST00000691463.1:c.1255G>T	ENSP00000510624.1:n.1255G>T
ENST00000692637.1:c.15866G>T	ENSP00000509666.1:p.Gly5289Val
ENST00000301067.12:c.15869G>T MANE Select	ENSP00000301067.7:p.Gly5290Val
ENST00000301067.11:c.15869G>T	ENSP00000301067.7:p.Gly5290Val
NM_003482.3:c.15869G>T	NP_003473.3:p.Gly5290Val
XM_005269162.3:c.15869G>T	XP_005269219.1:p.Gly5290Val
XM_006719614.2:c.15878G>T	XP_006719677.1:p.Gly5293Val
XM_006719616.2:c.15866G>T	XP_006719679.1:p.Gly5289Val
XM_011538770.1:c.15878G>T	XP_011537072.1:p.Gly5293Val
XM_011538771.1:c.15875G>T	XP_011537073.1:p.Gly5292Val
XM_011538772.1:c.15869G>T	XP_011537074.1:p.Gly5290Val
XM_011538773.1:c.15866G>T	XP_011537075.1:p.Gly5289Val
XM_011538774.1:c.15857G>T	XP_011537076.1:p.Gly5286Val
XM_011538775.1:c.15812G>T	XP_011537077.1:p.Gly5271Val
XM_011538776.1:c.15785G>T	XP_011537078.1:p.Gly5262Val
XR_944740.1:n.17057G>T
XM_005269162.4:c.15869G>T	XP_005269219.1:p.Gly5290Val
XM_006719614.4:c.15878G>T	XP_006719677.1:p.Gly5293Val
XM_006719616.3:c.15866G>T	XP_006719679.1:p.Gly5289Val
XM_011538770.2:c.15878G>T	XP_011537072.1:p.Gly5293Val
XM_011538771.2:c.15875G>T	XP_011537073.1:p.Gly5292Val
XM_011538772.2:c.15869G>T	XP_011537074.1:p.Gly5290Val
XM_011538773.2:c.15866G>T	XP_011537075.1:p.Gly5289Val
XM_011538774.2:c.15857G>T	XP_011537076.1:p.Gly5286Val
XM_011538776.2:c.15785G>T	XP_011537078.1:p.Gly5262Val
XR_001748874.1:n.16046G>T
NM_003482.4:c.15869G>T MANE Select	NP_003473.3:p.Gly5290Val