Canonical Allele Identifier: CA384677331

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137706132
• MyVariant Identifiers: chr12:g.49416375G>A (hg19) ; chr12:g.49022592G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022592G>A , CM000674.2:g.49022592G>A	GRCh38
NC_000012.11:g.49416375G>A , CM000674.1:g.49416375G>A	GRCh37
NC_000012.10:g.47702642G>A	NCBI36
NG_027827.1:g.37733C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.306C>T
ENST00000681974.1:n.1008C>T
ENST00000682693.1:n.1970C>T
ENST00000682886.1:n.506C>T
ENST00000683543.2:c.16384C>T	ENSP00000506726.1:p.Gln5462Ter
ENST00000683988.1:c.307C>T	ENSP00000506939.1:p.Gln103Ter
ENST00000684428.1:c.871C>T	ENSP00000507433.1:p.Gln291Ter
ENST00000684755.1:n.919C>T
ENST00000685024.1:c.1490C>T
ENST00000685166.1:c.16345C>T	ENSP00000509386.1:p.Gln5449Ter
ENST00000688411.1:c.813C>T	ENSP00000510146.1:n.813C>T
ENST00000691932.1:c.337C>T	ENSP00000509037.1:p.Gln113Ter
ENST00000692637.1:c.16333C>T	ENSP00000509666.1:p.Gln5445Ter
ENST00000301067.12:c.16336C>T MANE Select	ENSP00000301067.7:p.Gln5446Ter
ENST00000301067.11:c.16336C>T	ENSP00000301067.7:p.Gln5446Ter
ENST00000526209.1:c.379C>T	ENSP00000435714.1:p.Gln127Ter
NM_003482.3:c.16336C>T	NP_003473.3:p.Gln5446Ter
XM_005269162.3:c.16336C>T	XP_005269219.1:p.Gln5446Ter
XM_006719614.2:c.16345C>T	XP_006719677.1:p.Gln5449Ter
XM_006719616.2:c.16333C>T	XP_006719679.1:p.Gln5445Ter
XM_011538770.1:c.16393C>T	XP_011537072.1:p.Gln5465Ter
XM_011538771.1:c.16390C>T	XP_011537073.1:p.Gln5464Ter
XM_011538772.1:c.16384C>T	XP_011537074.1:p.Gln5462Ter
XM_011538773.1:c.16381C>T	XP_011537075.1:p.Gln5461Ter
XM_011538774.1:c.16372C>T	XP_011537076.1:p.Gln5458Ter
XM_011538775.1:c.16327C>T	XP_011537077.1:p.Gln5443Ter
XM_011538776.1:c.16300C>T	XP_011537078.1:p.Gln5434Ter
XM_005269162.4:c.16336C>T	XP_005269219.1:p.Gln5446Ter
XM_006719614.4:c.16345C>T	XP_006719677.1:p.Gln5449Ter
XM_006719616.3:c.16333C>T	XP_006719679.1:p.Gln5445Ter
XM_011538770.2:c.16393C>T	XP_011537072.1:p.Gln5465Ter
XM_011538771.2:c.16390C>T	XP_011537073.1:p.Gln5464Ter
XM_011538772.2:c.16384C>T	XP_011537074.1:p.Gln5462Ter
XM_011538773.2:c.16381C>T	XP_011537075.1:p.Gln5461Ter
XM_011538774.2:c.16372C>T	XP_011537076.1:p.Gln5458Ter
XM_011538776.2:c.16300C>T	XP_011537078.1:p.Gln5434Ter
XR_001748874.1:n.16513C>T
NM_003482.4:c.16336C>T MANE Select	NP_003473.3:p.Gln5446Ter