Canonical Allele Identifier: CA384677399

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49416384A>C (hg19) ; chr12:g.49022601A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022601A>C , CM000674.2:g.49022601A>C	GRCh38
NC_000012.11:g.49416384A>C , CM000674.1:g.49416384A>C	GRCh37
NC_000012.10:g.47702651A>C	NCBI36
NG_027827.1:g.37724T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.297T>G
ENST00000681974.1:n.999T>G
ENST00000682693.1:n.1961T>G
ENST00000682886.1:n.497T>G
ENST00000683543.2:c.16375T>G	ENSP00000506726.1:p.Tyr5459Asp
ENST00000683988.1:c.298T>G	ENSP00000506939.1:p.Tyr100Asp
ENST00000684428.1:c.862T>G	ENSP00000507433.1:p.Tyr288Asp
ENST00000684755.1:n.910T>G
ENST00000685024.1:c.1481T>G
ENST00000685166.1:c.16336T>G	ENSP00000509386.1:p.Tyr5446Asp
ENST00000688411.1:c.804T>G	ENSP00000510146.1:n.804T>G
ENST00000691932.1:c.328T>G	ENSP00000509037.1:p.Tyr110Asp
ENST00000692637.1:c.16324T>G	ENSP00000509666.1:p.Tyr5442Asp
ENST00000301067.12:c.16327T>G MANE Select	ENSP00000301067.7:p.Tyr5443Asp
ENST00000301067.11:c.16327T>G	ENSP00000301067.7:p.Tyr5443Asp
ENST00000526209.1:c.370T>G	ENSP00000435714.1:p.Tyr124Asp
NM_003482.3:c.16327T>G	NP_003473.3:p.Tyr5443Asp
XM_005269162.3:c.16327T>G	XP_005269219.1:p.Tyr5443Asp
XM_006719614.2:c.16336T>G	XP_006719677.1:p.Tyr5446Asp
XM_006719616.2:c.16324T>G	XP_006719679.1:p.Tyr5442Asp
XM_011538770.1:c.16384T>G	XP_011537072.1:p.Tyr5462Asp
XM_011538771.1:c.16381T>G	XP_011537073.1:p.Tyr5461Asp
XM_011538772.1:c.16375T>G	XP_011537074.1:p.Tyr5459Asp
XM_011538773.1:c.16372T>G	XP_011537075.1:p.Tyr5458Asp
XM_011538774.1:c.16363T>G	XP_011537076.1:p.Tyr5455Asp
XM_011538775.1:c.16318T>G	XP_011537077.1:p.Tyr5440Asp
XM_011538776.1:c.16291T>G	XP_011537078.1:p.Tyr5431Asp
XM_005269162.4:c.16327T>G	XP_005269219.1:p.Tyr5443Asp
XM_006719614.4:c.16336T>G	XP_006719677.1:p.Tyr5446Asp
XM_006719616.3:c.16324T>G	XP_006719679.1:p.Tyr5442Asp
XM_011538770.2:c.16384T>G	XP_011537072.1:p.Tyr5462Asp
XM_011538771.2:c.16381T>G	XP_011537073.1:p.Tyr5461Asp
XM_011538772.2:c.16375T>G	XP_011537074.1:p.Tyr5459Asp
XM_011538773.2:c.16372T>G	XP_011537075.1:p.Tyr5458Asp
XM_011538774.2:c.16363T>G	XP_011537076.1:p.Tyr5455Asp
XM_011538776.2:c.16291T>G	XP_011537078.1:p.Tyr5431Asp
XR_001748874.1:n.16504T>G
NM_003482.4:c.16327T>G MANE Select	NP_003473.3:p.Tyr5443Asp