Canonical Allele Identifier: CA384675912

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49415870T>A (hg19) ; chr12:g.49022087T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022087T>A , CM000674.2:g.49022087T>A	GRCh38
NC_000012.11:g.49415870T>A , CM000674.1:g.49415870T>A	GRCh37
NC_000012.10:g.47702137T>A	NCBI36
NG_027827.1:g.38238A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.447A>T
ENST00000681974.1:n.1149A>T
ENST00000682693.1:n.2111A>T
ENST00000682886.1:n.883A>T
ENST00000683543.2:c.16525A>T	ENSP00000506726.1:p.Lys5509Ter
ENST00000683988.1:c.448A>T	ENSP00000506939.1:p.Lys150Ter
ENST00000684428.1:c.1070A>T	ENSP00000507433.1:n.1070A>T
ENST00000685024.1:c.1631A>T
ENST00000685166.1:c.16486A>T	ENSP00000509386.1:p.Lys5496Ter
ENST00000691932.1:c.478A>T	ENSP00000509037.1:p.Lys160Ter
ENST00000692637.1:c.16474A>T	ENSP00000509666.1:p.Lys5492Ter
ENST00000301067.12:c.16477A>T MANE Select	ENSP00000301067.7:p.Lys5493Ter
ENST00000301067.11:c.16477A>T	ENSP00000301067.7:p.Lys5493Ter
ENST00000526209.1:c.520A>T	ENSP00000435714.1:p.Lys174Ter
NM_003482.3:c.16477A>T	NP_003473.3:p.Lys5493Ter
XM_005269162.3:c.16477A>T	XP_005269219.1:p.Lys5493Ter
XM_006719614.2:c.16486A>T	XP_006719677.1:p.Lys5496Ter
XM_006719616.2:c.16474A>T	XP_006719679.1:p.Lys5492Ter
XM_011538770.1:c.16534A>T	XP_011537072.1:p.Lys5512Ter
XM_011538771.1:c.16531A>T	XP_011537073.1:p.Lys5511Ter
XM_011538772.1:c.16525A>T	XP_011537074.1:p.Lys5509Ter
XM_011538773.1:c.16522A>T	XP_011537075.1:p.Lys5508Ter
XM_011538774.1:c.16513A>T	XP_011537076.1:p.Lys5505Ter
XM_011538775.1:c.16468A>T	XP_011537077.1:p.Lys5490Ter
XM_011538776.1:c.16441A>T	XP_011537078.1:p.Lys5481Ter
XM_005269162.4:c.16477A>T	XP_005269219.1:p.Lys5493Ter
XM_006719614.4:c.16486A>T	XP_006719677.1:p.Lys5496Ter
XM_006719616.3:c.16474A>T	XP_006719679.1:p.Lys5492Ter
XM_011538770.2:c.16534A>T	XP_011537072.1:p.Lys5512Ter
XM_011538771.2:c.16531A>T	XP_011537073.1:p.Lys5511Ter
XM_011538772.2:c.16525A>T	XP_011537074.1:p.Lys5509Ter
XM_011538773.2:c.16522A>T	XP_011537075.1:p.Lys5508Ter
XM_011538774.2:c.16513A>T	XP_011537076.1:p.Lys5505Ter
XM_011538776.2:c.16441A>T	XP_011537078.1:p.Lys5481Ter
XR_001748874.1:n.16654A>T
NM_003482.4:c.16477A>T MANE Select	NP_003473.3:p.Lys5493Ter