Canonical Allele Identifier: CA384677525

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137706312
• MyVariant Identifiers: chr12:g.49416404G>A (hg19) ; chr12:g.49022621G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022621G>A , CM000674.2:g.49022621G>A	GRCh38
NC_000012.11:g.49416404G>A , CM000674.1:g.49416404G>A	GRCh37
NC_000012.10:g.47702671G>A	NCBI36
NG_027827.1:g.37704C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.277C>T
ENST00000681974.1:n.979C>T
ENST00000682693.1:n.1941C>T
ENST00000682886.1:n.477C>T
ENST00000683543.2:c.16355C>T	ENSP00000506726.1:p.Ala5452Val
ENST00000683988.1:c.278C>T	ENSP00000506939.1:p.Ala93Val
ENST00000684428.1:c.842C>T	ENSP00000507433.1:p.Ala281Val
ENST00000684755.1:n.890C>T
ENST00000685024.1:c.1461C>T
ENST00000685166.1:c.16316C>T	ENSP00000509386.1:p.Ala5439Val
ENST00000688411.1:c.784C>T	ENSP00000510146.1:n.784C>T
ENST00000691932.1:c.308C>T	ENSP00000509037.1:p.Ala103Val
ENST00000692637.1:c.16304C>T	ENSP00000509666.1:p.Ala5435Val
ENST00000301067.12:c.16307C>T MANE Select	ENSP00000301067.7:p.Ala5436Val
ENST00000301067.11:c.16307C>T	ENSP00000301067.7:p.Ala5436Val
ENST00000526209.1:c.350C>T	ENSP00000435714.1:p.Ala117Val
NM_003482.3:c.16307C>T	NP_003473.3:p.Ala5436Val
XM_005269162.3:c.16307C>T	XP_005269219.1:p.Ala5436Val
XM_006719614.2:c.16316C>T	XP_006719677.1:p.Ala5439Val
XM_006719616.2:c.16304C>T	XP_006719679.1:p.Ala5435Val
XM_011538770.1:c.16364C>T	XP_011537072.1:p.Ala5455Val
XM_011538771.1:c.16361C>T	XP_011537073.1:p.Ala5454Val
XM_011538772.1:c.16355C>T	XP_011537074.1:p.Ala5452Val
XM_011538773.1:c.16352C>T	XP_011537075.1:p.Ala5451Val
XM_011538774.1:c.16343C>T	XP_011537076.1:p.Ala5448Val
XM_011538775.1:c.16298C>T	XP_011537077.1:p.Ala5433Val
XM_011538776.1:c.16271C>T	XP_011537078.1:p.Ala5424Val
XM_005269162.4:c.16307C>T	XP_005269219.1:p.Ala5436Val
XM_006719614.4:c.16316C>T	XP_006719677.1:p.Ala5439Val
XM_006719616.3:c.16304C>T	XP_006719679.1:p.Ala5435Val
XM_011538770.2:c.16364C>T	XP_011537072.1:p.Ala5455Val
XM_011538771.2:c.16361C>T	XP_011537073.1:p.Ala5454Val
XM_011538772.2:c.16355C>T	XP_011537074.1:p.Ala5452Val
XM_011538773.2:c.16352C>T	XP_011537075.1:p.Ala5451Val
XM_011538774.2:c.16343C>T	XP_011537076.1:p.Ala5448Val
XM_011538776.2:c.16271C>T	XP_011537078.1:p.Ala5424Val
XR_001748874.1:n.16484C>T
NM_003482.4:c.16307C>T MANE Select	NP_003473.3:p.Ala5436Val