Canonical Allele Identifier: CA384677401

Gene: KMT2D

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.297T>A
ENST00000681974.1:n.999T>A
ENST00000682693.1:n.1961T>A
ENST00000682886.1:n.497T>A
ENST00000683543.2:c.16375T>A	ENSP00000506726.1:p.Tyr5459Asn
ENST00000683988.1:c.298T>A	ENSP00000506939.1:p.Tyr100Asn
ENST00000684428.1:c.862T>A	ENSP00000507433.1:p.Tyr288Asn
ENST00000684755.1:n.910T>A
ENST00000685024.1:c.1481T>A
ENST00000685166.1:c.16336T>A	ENSP00000509386.1:p.Tyr5446Asn
ENST00000688411.1:c.804T>A	ENSP00000510146.1:n.804T>A
ENST00000691932.1:c.328T>A	ENSP00000509037.1:p.Tyr110Asn
ENST00000692637.1:c.16324T>A	ENSP00000509666.1:p.Tyr5442Asn
ENST00000301067.12:c.16327T>A MANE Select	ENSP00000301067.7:p.Tyr5443Asn
ENST00000301067.11:c.16327T>A	ENSP00000301067.7:p.Tyr5443Asn
ENST00000526209.1:c.370T>A	ENSP00000435714.1:p.Tyr124Asn
NM_003482.3:c.16327T>A	NP_003473.3:p.Tyr5443Asn
XM_005269162.3:c.16327T>A	XP_005269219.1:p.Tyr5443Asn
XM_006719614.2:c.16336T>A	XP_006719677.1:p.Tyr5446Asn
XM_006719616.2:c.16324T>A	XP_006719679.1:p.Tyr5442Asn
XM_011538770.1:c.16384T>A	XP_011537072.1:p.Tyr5462Asn
XM_011538771.1:c.16381T>A	XP_011537073.1:p.Tyr5461Asn
XM_011538772.1:c.16375T>A	XP_011537074.1:p.Tyr5459Asn
XM_011538773.1:c.16372T>A	XP_011537075.1:p.Tyr5458Asn
XM_011538774.1:c.16363T>A	XP_011537076.1:p.Tyr5455Asn
XM_011538775.1:c.16318T>A	XP_011537077.1:p.Tyr5440Asn
XM_011538776.1:c.16291T>A	XP_011537078.1:p.Tyr5431Asn
XM_005269162.4:c.16327T>A	XP_005269219.1:p.Tyr5443Asn
XM_006719614.4:c.16336T>A	XP_006719677.1:p.Tyr5446Asn
XM_006719616.3:c.16324T>A	XP_006719679.1:p.Tyr5442Asn
XM_011538770.2:c.16384T>A	XP_011537072.1:p.Tyr5462Asn
XM_011538771.2:c.16381T>A	XP_011537073.1:p.Tyr5461Asn
XM_011538772.2:c.16375T>A	XP_011537074.1:p.Tyr5459Asn
XM_011538773.2:c.16372T>A	XP_011537075.1:p.Tyr5458Asn
XM_011538774.2:c.16363T>A	XP_011537076.1:p.Tyr5455Asn
XM_011538776.2:c.16291T>A	XP_011537078.1:p.Tyr5431Asn
XR_001748874.1:n.16504T>A
NM_003482.4:c.16327T>A MANE Select	NP_003473.3:p.Tyr5443Asn