Canonical Allele Identifier: CA384675948

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49415877T>G (hg19) ; chr12:g.49022094T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022094T>G , CM000674.2:g.49022094T>G	GRCh38
NC_000012.11:g.49415877T>G , CM000674.1:g.49415877T>G	GRCh37
NC_000012.10:g.47702144T>G	NCBI36
NG_027827.1:g.38231A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.440A>C
ENST00000681974.1:n.1142A>C
ENST00000682693.1:n.2104A>C
ENST00000682886.1:n.876A>C
ENST00000683543.2:c.16518A>C	ENSP00000506726.1:p.Lys5506Asn
ENST00000683988.1:c.441A>C	ENSP00000506939.1:p.Lys147Asn
ENST00000684428.1:c.1063A>C	ENSP00000507433.1:n.1063A>C
ENST00000685024.1:c.1624A>C
ENST00000685166.1:c.16479A>C	ENSP00000509386.1:p.Lys5493Asn
ENST00000691932.1:c.471A>C	ENSP00000509037.1:p.Lys157Asn
ENST00000692637.1:c.16467A>C	ENSP00000509666.1:p.Lys5489Asn
ENST00000301067.12:c.16470A>C MANE Select	ENSP00000301067.7:p.Lys5490Asn
ENST00000301067.11:c.16470A>C	ENSP00000301067.7:p.Lys5490Asn
ENST00000526209.1:c.513A>C	ENSP00000435714.1:p.Lys171Asn
NM_003482.3:c.16470A>C	NP_003473.3:p.Lys5490Asn
XM_005269162.3:c.16470A>C	XP_005269219.1:p.Lys5490Asn
XM_006719614.2:c.16479A>C	XP_006719677.1:p.Lys5493Asn
XM_006719616.2:c.16467A>C	XP_006719679.1:p.Lys5489Asn
XM_011538770.1:c.16527A>C	XP_011537072.1:p.Lys5509Asn
XM_011538771.1:c.16524A>C	XP_011537073.1:p.Lys5508Asn
XM_011538772.1:c.16518A>C	XP_011537074.1:p.Lys5506Asn
XM_011538773.1:c.16515A>C	XP_011537075.1:p.Lys5505Asn
XM_011538774.1:c.16506A>C	XP_011537076.1:p.Lys5502Asn
XM_011538775.1:c.16461A>C	XP_011537077.1:p.Lys5487Asn
XM_011538776.1:c.16434A>C	XP_011537078.1:p.Lys5478Asn
XM_005269162.4:c.16470A>C	XP_005269219.1:p.Lys5490Asn
XM_006719614.4:c.16479A>C	XP_006719677.1:p.Lys5493Asn
XM_006719616.3:c.16467A>C	XP_006719679.1:p.Lys5489Asn
XM_011538770.2:c.16527A>C	XP_011537072.1:p.Lys5509Asn
XM_011538771.2:c.16524A>C	XP_011537073.1:p.Lys5508Asn
XM_011538772.2:c.16518A>C	XP_011537074.1:p.Lys5506Asn
XM_011538773.2:c.16515A>C	XP_011537075.1:p.Lys5505Asn
XM_011538774.2:c.16506A>C	XP_011537076.1:p.Lys5502Asn
XM_011538776.2:c.16434A>C	XP_011537078.1:p.Lys5478Asn
XR_001748874.1:n.16647A>C
NM_003482.4:c.16470A>C MANE Select	NP_003473.3:p.Lys5490Asn