Canonical Allele Identifier: CA384676823

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137704948
• MyVariant Identifiers: chr12:g.49416087G>A (hg19) ; chr12:g.49022304G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022304G>A , CM000674.2:g.49022304G>A	GRCh38
NC_000012.11:g.49416087G>A , CM000674.1:g.49416087G>A	GRCh37
NC_000012.10:g.47702354G>A	NCBI36
NG_027827.1:g.38021C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.358C>T
ENST00000681974.1:n.1060C>T
ENST00000682693.1:n.2022C>T
ENST00000682886.1:n.794C>T
ENST00000683543.2:c.16436C>T	ENSP00000506726.1:p.Ala5479Val
ENST00000683988.1:c.359C>T	ENSP00000506939.1:p.Ala120Val
ENST00000684428.1:c.981C>T	ENSP00000507433.1:n.981C>T
ENST00000685024.1:c.1542C>T
ENST00000685166.1:c.16397C>T	ENSP00000509386.1:p.Ala5466Val
ENST00000691932.1:c.389C>T	ENSP00000509037.1:p.Ala130Val
ENST00000692637.1:c.16385C>T	ENSP00000509666.1:p.Ala5462Val
ENST00000301067.12:c.16388C>T MANE Select	ENSP00000301067.7:p.Ala5463Val
ENST00000301067.11:c.16388C>T	ENSP00000301067.7:p.Ala5463Val
ENST00000526209.1:c.431C>T	ENSP00000435714.1:p.Ala144Val
NM_003482.3:c.16388C>T	NP_003473.3:p.Ala5463Val
XM_005269162.3:c.16388C>T	XP_005269219.1:p.Ala5463Val
XM_006719614.2:c.16397C>T	XP_006719677.1:p.Ala5466Val
XM_006719616.2:c.16385C>T	XP_006719679.1:p.Ala5462Val
XM_011538770.1:c.16445C>T	XP_011537072.1:p.Ala5482Val
XM_011538771.1:c.16442C>T	XP_011537073.1:p.Ala5481Val
XM_011538772.1:c.16436C>T	XP_011537074.1:p.Ala5479Val
XM_011538773.1:c.16433C>T	XP_011537075.1:p.Ala5478Val
XM_011538774.1:c.16424C>T	XP_011537076.1:p.Ala5475Val
XM_011538775.1:c.16379C>T	XP_011537077.1:p.Ala5460Val
XM_011538776.1:c.16352C>T	XP_011537078.1:p.Ala5451Val
XM_005269162.4:c.16388C>T	XP_005269219.1:p.Ala5463Val
XM_006719614.4:c.16397C>T	XP_006719677.1:p.Ala5466Val
XM_006719616.3:c.16385C>T	XP_006719679.1:p.Ala5462Val
XM_011538770.2:c.16445C>T	XP_011537072.1:p.Ala5482Val
XM_011538771.2:c.16442C>T	XP_011537073.1:p.Ala5481Val
XM_011538772.2:c.16436C>T	XP_011537074.1:p.Ala5479Val
XM_011538773.2:c.16433C>T	XP_011537075.1:p.Ala5478Val
XM_011538774.2:c.16424C>T	XP_011537076.1:p.Ala5475Val
XM_011538776.2:c.16352C>T	XP_011537078.1:p.Ala5451Val
XR_001748874.1:n.16565C>T
NM_003482.4:c.16388C>T MANE Select	NP_003473.3:p.Ala5463Val