Canonical Allele Identifier: CA384677400

Gene: KMT2D

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.297T>C
ENST00000681974.1:n.999T>C
ENST00000682693.1:n.1961T>C
ENST00000682886.1:n.497T>C
ENST00000683543.2:c.16375T>C	ENSP00000506726.1:p.Tyr5459His
ENST00000683988.1:c.298T>C	ENSP00000506939.1:p.Tyr100His
ENST00000684428.1:c.862T>C	ENSP00000507433.1:p.Tyr288His
ENST00000684755.1:n.910T>C
ENST00000685024.1:c.1481T>C
ENST00000685166.1:c.16336T>C	ENSP00000509386.1:p.Tyr5446His
ENST00000688411.1:c.804T>C	ENSP00000510146.1:n.804T>C
ENST00000691932.1:c.328T>C	ENSP00000509037.1:p.Tyr110His
ENST00000692637.1:c.16324T>C	ENSP00000509666.1:p.Tyr5442His
ENST00000301067.12:c.16327T>C MANE Select	ENSP00000301067.7:p.Tyr5443His
ENST00000301067.11:c.16327T>C	ENSP00000301067.7:p.Tyr5443His
ENST00000526209.1:c.370T>C	ENSP00000435714.1:p.Tyr124His
NM_003482.3:c.16327T>C	NP_003473.3:p.Tyr5443His
XM_005269162.3:c.16327T>C	XP_005269219.1:p.Tyr5443His
XM_006719614.2:c.16336T>C	XP_006719677.1:p.Tyr5446His
XM_006719616.2:c.16324T>C	XP_006719679.1:p.Tyr5442His
XM_011538770.1:c.16384T>C	XP_011537072.1:p.Tyr5462His
XM_011538771.1:c.16381T>C	XP_011537073.1:p.Tyr5461His
XM_011538772.1:c.16375T>C	XP_011537074.1:p.Tyr5459His
XM_011538773.1:c.16372T>C	XP_011537075.1:p.Tyr5458His
XM_011538774.1:c.16363T>C	XP_011537076.1:p.Tyr5455His
XM_011538775.1:c.16318T>C	XP_011537077.1:p.Tyr5440His
XM_011538776.1:c.16291T>C	XP_011537078.1:p.Tyr5431His
XM_005269162.4:c.16327T>C	XP_005269219.1:p.Tyr5443His
XM_006719614.4:c.16336T>C	XP_006719677.1:p.Tyr5446His
XM_006719616.3:c.16324T>C	XP_006719679.1:p.Tyr5442His
XM_011538770.2:c.16384T>C	XP_011537072.1:p.Tyr5462His
XM_011538771.2:c.16381T>C	XP_011537073.1:p.Tyr5461His
XM_011538772.2:c.16375T>C	XP_011537074.1:p.Tyr5459His
XM_011538773.2:c.16372T>C	XP_011537075.1:p.Tyr5458His
XM_011538774.2:c.16363T>C	XP_011537076.1:p.Tyr5455His
XM_011538776.2:c.16291T>C	XP_011537078.1:p.Tyr5431His
XR_001748874.1:n.16504T>C
NM_003482.4:c.16327T>C MANE Select	NP_003473.3:p.Tyr5443His