Canonical Allele Identifier: CA384675808

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137703638
• MyVariant Identifiers: chr12:g.49415857A>G (hg19) ; chr12:g.49022074A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022074A>G , CM000674.2:g.49022074A>G	GRCh38
NC_000012.11:g.49415857A>G , CM000674.1:g.49415857A>G	GRCh37
NC_000012.10:g.47702124A>G	NCBI36
NG_027827.1:g.38251T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.460T>C
ENST00000681974.1:n.1162T>C
ENST00000682693.1:n.2124T>C
ENST00000682886.1:n.896T>C
ENST00000683543.2:c.16538T>C	ENSP00000506726.1:p.Ile5513Thr
ENST00000683988.1:c.461T>C	ENSP00000506939.1:p.Ile154Thr
ENST00000684428.1:c.1083T>C	ENSP00000507433.1:n.1083T>C
ENST00000685024.1:c.1644T>C
ENST00000685166.1:c.16499T>C	ENSP00000509386.1:p.Ile5500Thr
ENST00000691932.1:c.491T>C	ENSP00000509037.1:p.Ile164Thr
ENST00000692637.1:c.16487T>C	ENSP00000509666.1:p.Ile5496Thr
ENST00000301067.12:c.16490T>C MANE Select	ENSP00000301067.7:p.Ile5497Thr
ENST00000301067.11:c.16490T>C	ENSP00000301067.7:p.Ile5497Thr
ENST00000526209.1:c.533T>C	ENSP00000435714.1:p.Ile178Thr
NM_003482.3:c.16490T>C	NP_003473.3:p.Ile5497Thr
XM_005269162.3:c.16490T>C	XP_005269219.1:p.Ile5497Thr
XM_006719614.2:c.16499T>C	XP_006719677.1:p.Ile5500Thr
XM_006719616.2:c.16487T>C	XP_006719679.1:p.Ile5496Thr
XM_011538770.1:c.16547T>C	XP_011537072.1:p.Ile5516Thr
XM_011538771.1:c.16544T>C	XP_011537073.1:p.Ile5515Thr
XM_011538772.1:c.16538T>C	XP_011537074.1:p.Ile5513Thr
XM_011538773.1:c.16535T>C	XP_011537075.1:p.Ile5512Thr
XM_011538774.1:c.16526T>C	XP_011537076.1:p.Ile5509Thr
XM_011538775.1:c.16481T>C	XP_011537077.1:p.Ile5494Thr
XM_011538776.1:c.16454T>C	XP_011537078.1:p.Ile5485Thr
XM_005269162.4:c.16490T>C	XP_005269219.1:p.Ile5497Thr
XM_006719614.4:c.16499T>C	XP_006719677.1:p.Ile5500Thr
XM_006719616.3:c.16487T>C	XP_006719679.1:p.Ile5496Thr
XM_011538770.2:c.16547T>C	XP_011537072.1:p.Ile5516Thr
XM_011538771.2:c.16544T>C	XP_011537073.1:p.Ile5515Thr
XM_011538772.2:c.16538T>C	XP_011537074.1:p.Ile5513Thr
XM_011538773.2:c.16535T>C	XP_011537075.1:p.Ile5512Thr
XM_011538774.2:c.16526T>C	XP_011537076.1:p.Ile5509Thr
XM_011538776.2:c.16454T>C	XP_011537078.1:p.Ile5485Thr
XR_001748874.1:n.16667T>C
NM_003482.4:c.16490T>C MANE Select	NP_003473.3:p.Ile5497Thr