Canonical Allele Identifier: CA384677375

Gene: KMT2D

Linked Data

• dbSNP Id: rs370674392
• MyVariant Identifiers: chr12:g.49416382G>C (hg19) ; chr12:g.49022599G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022599G>C , CM000674.2:g.49022599G>C	GRCh38
NC_000012.11:g.49416382G>C , CM000674.1:g.49416382G>C	GRCh37
NC_000012.10:g.47702649G>C	NCBI36
NG_027827.1:g.37726C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.299C>G
ENST00000681974.1:n.1001C>G
ENST00000682693.1:n.1963C>G
ENST00000682886.1:n.499C>G
ENST00000683543.2:c.16377C>G	ENSP00000506726.1:p.Tyr5459Ter
ENST00000683988.1:c.300C>G	ENSP00000506939.1:p.Tyr100Ter
ENST00000684428.1:c.864C>G	ENSP00000507433.1:p.Tyr288Ter
ENST00000684755.1:n.912C>G
ENST00000685024.1:c.1483C>G
ENST00000685166.1:c.16338C>G	ENSP00000509386.1:p.Tyr5446Ter
ENST00000688411.1:c.806C>G	ENSP00000510146.1:n.806C>G
ENST00000691932.1:c.330C>G	ENSP00000509037.1:p.Tyr110Ter
ENST00000692637.1:c.16326C>G	ENSP00000509666.1:p.Tyr5442Ter
ENST00000301067.12:c.16329C>G MANE Select	ENSP00000301067.7:p.Tyr5443Ter
ENST00000301067.11:c.16329C>G	ENSP00000301067.7:p.Tyr5443Ter
ENST00000526209.1:c.372C>G	ENSP00000435714.1:p.Tyr124Ter
NM_003482.3:c.16329C>G	NP_003473.3:p.Tyr5443Ter
XM_005269162.3:c.16329C>G	XP_005269219.1:p.Tyr5443Ter
XM_006719614.2:c.16338C>G	XP_006719677.1:p.Tyr5446Ter
XM_006719616.2:c.16326C>G	XP_006719679.1:p.Tyr5442Ter
XM_011538770.1:c.16386C>G	XP_011537072.1:p.Tyr5462Ter
XM_011538771.1:c.16383C>G	XP_011537073.1:p.Tyr5461Ter
XM_011538772.1:c.16377C>G	XP_011537074.1:p.Tyr5459Ter
XM_011538773.1:c.16374C>G	XP_011537075.1:p.Tyr5458Ter
XM_011538774.1:c.16365C>G	XP_011537076.1:p.Tyr5455Ter
XM_011538775.1:c.16320C>G	XP_011537077.1:p.Tyr5440Ter
XM_011538776.1:c.16293C>G	XP_011537078.1:p.Tyr5431Ter
XM_005269162.4:c.16329C>G	XP_005269219.1:p.Tyr5443Ter
XM_006719614.4:c.16338C>G	XP_006719677.1:p.Tyr5446Ter
XM_006719616.3:c.16326C>G	XP_006719679.1:p.Tyr5442Ter
XM_011538770.2:c.16386C>G	XP_011537072.1:p.Tyr5462Ter
XM_011538771.2:c.16383C>G	XP_011537073.1:p.Tyr5461Ter
XM_011538772.2:c.16377C>G	XP_011537074.1:p.Tyr5459Ter
XM_011538773.2:c.16374C>G	XP_011537075.1:p.Tyr5458Ter
XM_011538774.2:c.16365C>G	XP_011537076.1:p.Tyr5455Ter
XM_011538776.2:c.16293C>G	XP_011537078.1:p.Tyr5431Ter
XR_001748874.1:n.16506C>G
NM_003482.4:c.16329C>G MANE Select	NP_003473.3:p.Tyr5443Ter