Canonical Allele Identifier: CA384675705

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137703531
• MyVariant Identifiers: chr12:g.49415839G>T (hg19) ; chr12:g.49022056G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022056G>T , CM000674.2:g.49022056G>T	GRCh38
NC_000012.11:g.49415839G>T , CM000674.1:g.49415839G>T	GRCh37
NC_000012.10:g.47702106G>T	NCBI36
NG_027827.1:g.38269C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.478C>A
ENST00000681974.1:n.1180C>A
ENST00000682693.1:n.2142C>A
ENST00000682886.1:n.914C>A
ENST00000683543.2:c.16556C>A	ENSP00000506726.1:p.Pro5519His
ENST00000683988.1:c.479C>A	ENSP00000506939.1:p.Pro160His
ENST00000684428.1:c.1101C>A	ENSP00000507433.1:n.1101C>A
ENST00000685024.1:c.1662C>A
ENST00000685166.1:c.16517C>A	ENSP00000509386.1:p.Pro5506His
ENST00000691932.1:c.509C>A	ENSP00000509037.1:p.Pro170His
ENST00000692637.1:c.16505C>A	ENSP00000509666.1:p.Pro5502His
ENST00000301067.12:c.16508C>A MANE Select	ENSP00000301067.7:p.Pro5503His
ENST00000301067.11:c.16508C>A	ENSP00000301067.7:p.Pro5503His
ENST00000526209.1:c.551C>A	ENSP00000435714.1:p.Pro184His
NM_003482.3:c.16508C>A	NP_003473.3:p.Pro5503His
XM_005269162.3:c.16508C>A	XP_005269219.1:p.Pro5503His
XM_006719614.2:c.16517C>A	XP_006719677.1:p.Pro5506His
XM_006719616.2:c.16505C>A	XP_006719679.1:p.Pro5502His
XM_011538770.1:c.16565C>A	XP_011537072.1:p.Pro5522His
XM_011538771.1:c.16562C>A	XP_011537073.1:p.Pro5521His
XM_011538772.1:c.16556C>A	XP_011537074.1:p.Pro5519His
XM_011538773.1:c.16553C>A	XP_011537075.1:p.Pro5518His
XM_011538774.1:c.16544C>A	XP_011537076.1:p.Pro5515His
XM_011538775.1:c.16499C>A	XP_011537077.1:p.Pro5500His
XM_011538776.1:c.16472C>A	XP_011537078.1:p.Pro5491His
XM_005269162.4:c.16508C>A	XP_005269219.1:p.Pro5503His
XM_006719614.4:c.16517C>A	XP_006719677.1:p.Pro5506His
XM_006719616.3:c.16505C>A	XP_006719679.1:p.Pro5502His
XM_011538770.2:c.16565C>A	XP_011537072.1:p.Pro5522His
XM_011538771.2:c.16562C>A	XP_011537073.1:p.Pro5521His
XM_011538772.2:c.16556C>A	XP_011537074.1:p.Pro5519His
XM_011538773.2:c.16553C>A	XP_011537075.1:p.Pro5518His
XM_011538774.2:c.16544C>A	XP_011537076.1:p.Pro5515His
XM_011538776.2:c.16472C>A	XP_011537078.1:p.Pro5491His
XR_001748874.1:n.16685C>A
NM_003482.4:c.16508C>A MANE Select	NP_003473.3:p.Pro5503His