Canonical Allele Identifier: CA479520861

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137703618
• MyVariant Identifiers: chr12:g.49415856G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022073G>A , CM000674.2:g.49022073G>A	GRCh38
NC_000012.11:g.49415856G>A , CM000674.1:g.49415856G>A	GRCh37
NC_000012.10:g.47702123G>A	NCBI36
NG_027827.1:g.38252C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.461C>T
ENST00000681974.1:n.1163C>T
ENST00000682693.1:n.2125C>T
ENST00000682886.1:n.897C>T
ENST00000683543.2:c.16539C>T	ENSP00000506726.1:p.Ile5513=
ENST00000683988.1:c.462C>T	ENSP00000506939.1:p.Ile154=
ENST00000684428.1:c.1084C>T	ENSP00000507433.1:n.1084C>T
ENST00000685024.1:c.1645C>T
ENST00000685166.1:c.16500C>T	ENSP00000509386.1:p.Ile5500=
ENST00000691932.1:c.492C>T	ENSP00000509037.1:p.Ile164=
ENST00000692637.1:c.16488C>T	ENSP00000509666.1:p.Ile5496=
ENST00000301067.12:c.16491C>T MANE Select	ENSP00000301067.7:p.Ile5497=
ENST00000301067.11:c.16491C>T	ENSP00000301067.7:p.Ile5497=
ENST00000526209.1:c.534C>T	ENSP00000435714.1:p.Ile178=
NM_003482.3:c.16491C>T	NP_003473.3:p.Ile5497=
XM_005269162.3:c.16491C>T	XP_005269219.1:p.Ile5497=
XM_006719614.2:c.16500C>T	XP_006719677.1:p.Ile5500=
XM_006719616.2:c.16488C>T	XP_006719679.1:p.Ile5496=
XM_011538770.1:c.16548C>T	XP_011537072.1:p.Ile5516=
XM_011538771.1:c.16545C>T	XP_011537073.1:p.Ile5515=
XM_011538772.1:c.16539C>T	XP_011537074.1:p.Ile5513=
XM_011538773.1:c.16536C>T	XP_011537075.1:p.Ile5512=
XM_011538774.1:c.16527C>T	XP_011537076.1:p.Ile5509=
XM_011538775.1:c.16482C>T	XP_011537077.1:p.Ile5494=
XM_011538776.1:c.16455C>T	XP_011537078.1:p.Ile5485=
XM_005269162.4:c.16491C>T	XP_005269219.1:p.Ile5497=
XM_006719614.4:c.16500C>T	XP_006719677.1:p.Ile5500=
XM_006719616.3:c.16488C>T	XP_006719679.1:p.Ile5496=
XM_011538770.2:c.16548C>T	XP_011537072.1:p.Ile5516=
XM_011538771.2:c.16545C>T	XP_011537073.1:p.Ile5515=
XM_011538772.2:c.16539C>T	XP_011537074.1:p.Ile5513=
XM_011538773.2:c.16536C>T	XP_011537075.1:p.Ile5512=
XM_011538774.2:c.16527C>T	XP_011537076.1:p.Ile5509=
XM_011538776.2:c.16455C>T	XP_011537078.1:p.Ile5485=
XR_001748874.1:n.16668C>T
NM_003482.4:c.16491C>T MANE Select	NP_003473.3:p.Ile5497=