Canonical Allele Identifier: CA2618605279

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137704200
• gnomAD v4: 12-49022167-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022167G>A , CM000674.2:g.49022167G>A	GRCh38
NC_000012.11:g.49415950G>A , CM000674.1:g.49415950G>A	GRCh37
NC_000012.10:g.47702217G>A	NCBI36
NG_027827.1:g.38158C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000526209.2:c.383-16C>T
ENST00000681974.1:n.1085-16C>T
ENST00000682693.1:n.2047-16C>T
ENST00000682886.1:n.819-16C>T
ENST00000683543.2:c.16461-16C>T	ENSP00000506726.1:n.16461-16C>T
ENST00000683988.1:c.384-16C>T	ENSP00000506939.1:n.384-16C>T
ENST00000684428.1:c.1006-16C>T	ENSP00000507433.1:n.1006-16C>T
ENST00000685024.1:c.1567-16C>T
ENST00000685166.1:c.16422-16C>T	ENSP00000509386.1:n.16422-16C>T
ENST00000691932.1:c.414-16C>T	ENSP00000509037.1:n.414-16C>T
ENST00000692637.1:c.16410-16C>T	ENSP00000509666.1:n.16410-16C>T
ENST00000301067.12:c.16413-16C>T MANE Select	ENSP00000301067.7:n.16413-16C>T
ENST00000301067.11:c.16413-16C>T	ENSP00000301067.7:n.16413-16C>T
ENST00000526209.1:c.456-16C>T	ENSP00000435714.1:n.456-16C>T
NM_003482.3:c.16413-16C>T	NP_003473.3:n.16413-16C>T
XM_005269162.3:c.16413-16C>T	XP_005269219.1:n.16413-16C>T
XM_006719614.2:c.16422-16C>T	XP_006719677.1:n.16422-16C>T
XM_006719616.2:c.16410-16C>T	XP_006719679.1:n.16410-16C>T
XM_011538770.1:c.16470-16C>T	XP_011537072.1:n.16470-16C>T
XM_011538771.1:c.16467-16C>T	XP_011537073.1:n.16467-16C>T
XM_011538772.1:c.16461-16C>T	XP_011537074.1:n.16461-16C>T
XM_011538773.1:c.16458-16C>T	XP_011537075.1:n.16458-16C>T
XM_011538774.1:c.16449-16C>T	XP_011537076.1:n.16449-16C>T
XM_011538775.1:c.16404-16C>T	XP_011537077.1:n.16404-16C>T
XM_011538776.1:c.16377-16C>T	XP_011537078.1:n.16377-16C>T
XM_005269162.4:c.16413-16C>T	XP_005269219.1:n.16413-16C>T
XM_006719614.4:c.16422-16C>T	XP_006719677.1:n.16422-16C>T
XM_006719616.3:c.16410-16C>T	XP_006719679.1:n.16410-16C>T
XM_011538770.2:c.16470-16C>T	XP_011537072.1:n.16470-16C>T
XM_011538771.2:c.16467-16C>T	XP_011537073.1:n.16467-16C>T
XM_011538772.2:c.16461-16C>T	XP_011537074.1:n.16461-16C>T
XM_011538773.2:c.16458-16C>T	XP_011537075.1:n.16458-16C>T
XM_011538774.2:c.16449-16C>T	XP_011537076.1:n.16449-16C>T
XM_011538776.2:c.16377-16C>T	XP_011537078.1:n.16377-16C>T
XR_001748874.1:n.16590-16C>T
NM_003482.4:c.16413-16C>T MANE Select	NP_003473.3:n.16413-16C>T