Canonical Allele Identifier: CA6545400

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 2150854
• ClinVar RCV Id: RCV003083537
• dbSNP Id: rs370674392
• ExAC: 12:49416382 G / A
• gnomAD v2: 12-49416382-G-A
• gnomAD v3: 12-49022599-G-A
• gnomAD v4: 12-49022599-G-A
• MyVariant Identifiers: chr12:g.49416382G>A (hg19) ; chr12:g.49022599G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022599G>A , CM000674.2:g.49022599G>A	GRCh38
NC_000012.11:g.49416382G>A , CM000674.1:g.49416382G>A	GRCh37
NC_000012.10:g.47702649G>A	NCBI36
NG_027827.1:g.37726C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.299C>T
ENST00000681974.1:n.1001C>T
ENST00000682693.1:n.1963C>T
ENST00000682886.1:n.499C>T
ENST00000683543.2:c.16377C>T	ENSP00000506726.1:p.Tyr5459=
ENST00000683988.1:c.300C>T	ENSP00000506939.1:p.Tyr100=
ENST00000684428.1:c.864C>T	ENSP00000507433.1:p.Tyr288=
ENST00000684755.1:n.912C>T
ENST00000685024.1:c.1483C>T
ENST00000685166.1:c.16338C>T	ENSP00000509386.1:p.Tyr5446=
ENST00000688411.1:c.806C>T	ENSP00000510146.1:n.806C>T
ENST00000691932.1:c.330C>T	ENSP00000509037.1:p.Tyr110=
ENST00000692637.1:c.16326C>T	ENSP00000509666.1:p.Tyr5442=
ENST00000301067.12:c.16329C>T MANE Select	ENSP00000301067.7:p.Tyr5443=
ENST00000301067.11:c.16329C>T	ENSP00000301067.7:p.Tyr5443=
ENST00000526209.1:c.372C>T	ENSP00000435714.1:p.Tyr124=
NM_003482.3:c.16329C>T	NP_003473.3:p.Tyr5443=
XM_005269162.3:c.16329C>T	XP_005269219.1:p.Tyr5443=
XM_006719614.2:c.16338C>T	XP_006719677.1:p.Tyr5446=
XM_006719616.2:c.16326C>T	XP_006719679.1:p.Tyr5442=
XM_011538770.1:c.16386C>T	XP_011537072.1:p.Tyr5462=
XM_011538771.1:c.16383C>T	XP_011537073.1:p.Tyr5461=
XM_011538772.1:c.16377C>T	XP_011537074.1:p.Tyr5459=
XM_011538773.1:c.16374C>T	XP_011537075.1:p.Tyr5458=
XM_011538774.1:c.16365C>T	XP_011537076.1:p.Tyr5455=
XM_011538775.1:c.16320C>T	XP_011537077.1:p.Tyr5440=
XM_011538776.1:c.16293C>T	XP_011537078.1:p.Tyr5431=
XM_005269162.4:c.16329C>T	XP_005269219.1:p.Tyr5443=
XM_006719614.4:c.16338C>T	XP_006719677.1:p.Tyr5446=
XM_006719616.3:c.16326C>T	XP_006719679.1:p.Tyr5442=
XM_011538770.2:c.16386C>T	XP_011537072.1:p.Tyr5462=
XM_011538771.2:c.16383C>T	XP_011537073.1:p.Tyr5461=
XM_011538772.2:c.16377C>T	XP_011537074.1:p.Tyr5459=
XM_011538773.2:c.16374C>T	XP_011537075.1:p.Tyr5458=
XM_011538774.2:c.16365C>T	XP_011537076.1:p.Tyr5455=
XM_011538776.2:c.16293C>T	XP_011537078.1:p.Tyr5431=
XR_001748874.1:n.16506C>T
NM_003482.4:c.16329C>T MANE Select	NP_003473.3:p.Tyr5443=