Canonical Allele Identifier: CA384677059

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137705100
• MyVariant Identifiers: chr12:g.49416118A>G (hg19) ; chr12:g.49022335A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022335A>G , CM000674.2:g.49022335A>G	GRCh38
NC_000012.11:g.49416118A>G , CM000674.1:g.49416118A>G	GRCh37
NC_000012.10:g.47702385A>G	NCBI36
NG_027827.1:g.37990T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.327T>C
ENST00000681974.1:n.1029T>C
ENST00000682693.1:n.1991T>C
ENST00000682886.1:n.763T>C
ENST00000683543.2:c.16405T>C	ENSP00000506726.1:p.Phe5469Leu
ENST00000683988.1:c.328T>C	ENSP00000506939.1:p.Phe110Leu
ENST00000684428.1:c.950T>C	ENSP00000507433.1:p.Val317Ala
ENST00000685024.1:c.1511T>C
ENST00000685166.1:c.16366T>C	ENSP00000509386.1:p.Phe5456Leu
ENST00000691932.1:c.358T>C	ENSP00000509037.1:p.Phe120Leu
ENST00000692637.1:c.16354T>C	ENSP00000509666.1:p.Phe5452Leu
ENST00000301067.12:c.16357T>C MANE Select	ENSP00000301067.7:p.Phe5453Leu
ENST00000301067.11:c.16357T>C	ENSP00000301067.7:p.Phe5453Leu
ENST00000526209.1:c.400T>C	ENSP00000435714.1:p.Phe134Leu
NM_003482.3:c.16357T>C	NP_003473.3:p.Phe5453Leu
XM_005269162.3:c.16357T>C	XP_005269219.1:p.Phe5453Leu
XM_006719614.2:c.16366T>C	XP_006719677.1:p.Phe5456Leu
XM_006719616.2:c.16354T>C	XP_006719679.1:p.Phe5452Leu
XM_011538770.1:c.16414T>C	XP_011537072.1:p.Phe5472Leu
XM_011538771.1:c.16411T>C	XP_011537073.1:p.Phe5471Leu
XM_011538772.1:c.16405T>C	XP_011537074.1:p.Phe5469Leu
XM_011538773.1:c.16402T>C	XP_011537075.1:p.Phe5468Leu
XM_011538774.1:c.16393T>C	XP_011537076.1:p.Phe5465Leu
XM_011538775.1:c.16348T>C	XP_011537077.1:p.Phe5450Leu
XM_011538776.1:c.16321T>C	XP_011537078.1:p.Phe5441Leu
XM_005269162.4:c.16357T>C	XP_005269219.1:p.Phe5453Leu
XM_006719614.4:c.16366T>C	XP_006719677.1:p.Phe5456Leu
XM_006719616.3:c.16354T>C	XP_006719679.1:p.Phe5452Leu
XM_011538770.2:c.16414T>C	XP_011537072.1:p.Phe5472Leu
XM_011538771.2:c.16411T>C	XP_011537073.1:p.Phe5471Leu
XM_011538772.2:c.16405T>C	XP_011537074.1:p.Phe5469Leu
XM_011538773.2:c.16402T>C	XP_011537075.1:p.Phe5468Leu
XM_011538774.2:c.16393T>C	XP_011537076.1:p.Phe5465Leu
XM_011538776.2:c.16321T>C	XP_011537078.1:p.Phe5441Leu
XR_001748874.1:n.16534T>C
NM_003482.4:c.16357T>C MANE Select	NP_003473.3:p.Phe5453Leu