Canonical Allele Identifier: CA384677477

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137706274
• MyVariant Identifiers: chr12:g.49416396G>A (hg19) ; chr12:g.49022613G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022613G>A , CM000674.2:g.49022613G>A	GRCh38
NC_000012.11:g.49416396G>A , CM000674.1:g.49416396G>A	GRCh37
NC_000012.10:g.47702663G>A	NCBI36
NG_027827.1:g.37712C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.285C>T
ENST00000681974.1:n.987C>T
ENST00000682693.1:n.1949C>T
ENST00000682886.1:n.485C>T
ENST00000683543.2:c.16363C>T	ENSP00000506726.1:p.Arg5455Trp
ENST00000683988.1:c.286C>T	ENSP00000506939.1:p.Arg96Trp
ENST00000684428.1:c.850C>T	ENSP00000507433.1:p.Arg284Trp
ENST00000684755.1:n.898C>T
ENST00000685024.1:c.1469C>T
ENST00000685166.1:c.16324C>T	ENSP00000509386.1:p.Arg5442Trp
ENST00000688411.1:c.792C>T	ENSP00000510146.1:n.792C>T
ENST00000691932.1:c.316C>T	ENSP00000509037.1:p.Arg106Trp
ENST00000692637.1:c.16312C>T	ENSP00000509666.1:p.Arg5438Trp
ENST00000301067.12:c.16315C>T MANE Select	ENSP00000301067.7:p.Arg5439Trp
ENST00000301067.11:c.16315C>T	ENSP00000301067.7:p.Arg5439Trp
ENST00000526209.1:c.358C>T	ENSP00000435714.1:p.Arg120Trp
NM_003482.3:c.16315C>T	NP_003473.3:p.Arg5439Trp
XM_005269162.3:c.16315C>T	XP_005269219.1:p.Arg5439Trp
XM_006719614.2:c.16324C>T	XP_006719677.1:p.Arg5442Trp
XM_006719616.2:c.16312C>T	XP_006719679.1:p.Arg5438Trp
XM_011538770.1:c.16372C>T	XP_011537072.1:p.Arg5458Trp
XM_011538771.1:c.16369C>T	XP_011537073.1:p.Arg5457Trp
XM_011538772.1:c.16363C>T	XP_011537074.1:p.Arg5455Trp
XM_011538773.1:c.16360C>T	XP_011537075.1:p.Arg5454Trp
XM_011538774.1:c.16351C>T	XP_011537076.1:p.Arg5451Trp
XM_011538775.1:c.16306C>T	XP_011537077.1:p.Arg5436Trp
XM_011538776.1:c.16279C>T	XP_011537078.1:p.Arg5427Trp
XM_005269162.4:c.16315C>T	XP_005269219.1:p.Arg5439Trp
XM_006719614.4:c.16324C>T	XP_006719677.1:p.Arg5442Trp
XM_006719616.3:c.16312C>T	XP_006719679.1:p.Arg5438Trp
XM_011538770.2:c.16372C>T	XP_011537072.1:p.Arg5458Trp
XM_011538771.2:c.16369C>T	XP_011537073.1:p.Arg5457Trp
XM_011538772.2:c.16363C>T	XP_011537074.1:p.Arg5455Trp
XM_011538773.2:c.16360C>T	XP_011537075.1:p.Arg5454Trp
XM_011538774.2:c.16351C>T	XP_011537076.1:p.Arg5451Trp
XM_011538776.2:c.16279C>T	XP_011537078.1:p.Arg5427Trp
XR_001748874.1:n.16492C>T
NM_003482.4:c.16315C>T MANE Select	NP_003473.3:p.Arg5439Trp