Canonical Allele Identifier: CA2726313888

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137703231

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49021995A>T , CM000674.2:g.49021995A>T	GRCh38
NC_000012.11:g.49415778A>T , CM000674.1:g.49415778A>T	GRCh37
NC_000012.10:g.47702045A>T	NCBI36
NG_027827.1:g.38330T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.491+48T>A
ENST00000681974.1:n.1193+48T>A
ENST00000682693.1:n.2155+48T>A
ENST00000682886.1:n.927+48T>A
ENST00000683543.2:c.16569+48T>A	ENSP00000506726.1:n.16569+48T>A
ENST00000683988.1:c.492+48T>A	ENSP00000506939.1:n.492+48T>A
ENST00000684428.1:c.1162T>A	ENSP00000507433.1:n.1162T>A
ENST00000685024.1:c.1675+48T>A
ENST00000685166.1:c.16530+48T>A	ENSP00000509386.1:n.16530+48T>A
ENST00000691932.1:c.522+48T>A	ENSP00000509037.1:n.522+48T>A
ENST00000692637.1:c.16518+48T>A	ENSP00000509666.1:n.16518+48T>A
ENST00000301067.12:c.16521+48T>A MANE Select	ENSP00000301067.7:n.16521+48T>A
ENST00000301067.11:c.16521+48T>A	ENSP00000301067.7:n.16521+48T>A
ENST00000526209.1:c.564+48T>A	ENSP00000435714.1:n.564+48T>A
NM_003482.3:c.16521+48T>A	NP_003473.3:n.16521+48T>A
XM_005269162.3:c.16521+48T>A	XP_005269219.1:n.16521+48T>A
XM_006719614.2:c.16530+48T>A	XP_006719677.1:n.16530+48T>A
XM_006719616.2:c.16518+48T>A	XP_006719679.1:n.16518+48T>A
XM_011538770.1:c.16578+48T>A	XP_011537072.1:n.16578+48T>A
XM_011538771.1:c.16575+48T>A	XP_011537073.1:n.16575+48T>A
XM_011538772.1:c.16569+48T>A	XP_011537074.1:n.16569+48T>A
XM_011538773.1:c.16566+48T>A	XP_011537075.1:n.16566+48T>A
XM_011538774.1:c.16557+48T>A	XP_011537076.1:n.16557+48T>A
XM_011538775.1:c.16512+48T>A	XP_011537077.1:n.16512+48T>A
XM_011538776.1:c.16485+48T>A	XP_011537078.1:n.16485+48T>A
XM_005269162.4:c.16521+48T>A	XP_005269219.1:n.16521+48T>A
XM_006719614.4:c.16530+48T>A	XP_006719677.1:n.16530+48T>A
XM_006719616.3:c.16518+48T>A	XP_006719679.1:n.16518+48T>A
XM_011538770.2:c.16578+48T>A	XP_011537072.1:n.16578+48T>A
XM_011538771.2:c.16575+48T>A	XP_011537073.1:n.16575+48T>A
XM_011538772.2:c.16569+48T>A	XP_011537074.1:n.16569+48T>A
XM_011538773.2:c.16566+48T>A	XP_011537075.1:n.16566+48T>A
XM_011538774.2:c.16557+48T>A	XP_011537076.1:n.16557+48T>A
XM_011538776.2:c.16485+48T>A	XP_011537078.1:n.16485+48T>A
XR_001748874.1:n.16698+48T>A
NM_003482.4:c.16521+48T>A MANE Select	NP_003473.3:n.16521+48T>A