Canonical Allele Identifier: CA384676562

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137704105
• MyVariant Identifiers: chr12:g.49415933A>G (hg19) ; chr12:g.49022150A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022150A>G , CM000674.2:g.49022150A>G	GRCh38
NC_000012.11:g.49415933A>G , CM000674.1:g.49415933A>G	GRCh37
NC_000012.10:g.47702200A>G	NCBI36
NG_027827.1:g.38175T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.384T>C
ENST00000681974.1:n.1086T>C
ENST00000682693.1:n.2048T>C
ENST00000682886.1:n.820T>C
ENST00000683543.2:c.16462T>C	ENSP00000506726.1:p.Tyr5488His
ENST00000683988.1:c.385T>C	ENSP00000506939.1:p.Tyr129His
ENST00000684428.1:c.1007T>C	ENSP00000507433.1:n.1007T>C
ENST00000685024.1:c.1568T>C
ENST00000685166.1:c.16423T>C	ENSP00000509386.1:p.Tyr5475His
ENST00000691932.1:c.415T>C	ENSP00000509037.1:p.Tyr139His
ENST00000692637.1:c.16411T>C	ENSP00000509666.1:p.Tyr5471His
ENST00000301067.12:c.16414T>C MANE Select	ENSP00000301067.7:p.Tyr5472His
ENST00000301067.11:c.16414T>C	ENSP00000301067.7:p.Tyr5472His
ENST00000526209.1:c.457T>C	ENSP00000435714.1:p.Tyr153His
NM_003482.3:c.16414T>C	NP_003473.3:p.Tyr5472His
XM_005269162.3:c.16414T>C	XP_005269219.1:p.Tyr5472His
XM_006719614.2:c.16423T>C	XP_006719677.1:p.Tyr5475His
XM_006719616.2:c.16411T>C	XP_006719679.1:p.Tyr5471His
XM_011538770.1:c.16471T>C	XP_011537072.1:p.Tyr5491His
XM_011538771.1:c.16468T>C	XP_011537073.1:p.Tyr5490His
XM_011538772.1:c.16462T>C	XP_011537074.1:p.Tyr5488His
XM_011538773.1:c.16459T>C	XP_011537075.1:p.Tyr5487His
XM_011538774.1:c.16450T>C	XP_011537076.1:p.Tyr5484His
XM_011538775.1:c.16405T>C	XP_011537077.1:p.Tyr5469His
XM_011538776.1:c.16378T>C	XP_011537078.1:p.Tyr5460His
XM_005269162.4:c.16414T>C	XP_005269219.1:p.Tyr5472His
XM_006719614.4:c.16423T>C	XP_006719677.1:p.Tyr5475His
XM_006719616.3:c.16411T>C	XP_006719679.1:p.Tyr5471His
XM_011538770.2:c.16471T>C	XP_011537072.1:p.Tyr5491His
XM_011538771.2:c.16468T>C	XP_011537073.1:p.Tyr5490His
XM_011538772.2:c.16462T>C	XP_011537074.1:p.Tyr5488His
XM_011538773.2:c.16459T>C	XP_011537075.1:p.Tyr5487His
XM_011538774.2:c.16450T>C	XP_011537076.1:p.Tyr5484His
XM_011538776.2:c.16378T>C	XP_011537078.1:p.Tyr5460His
XR_001748874.1:n.16591T>C
NM_003482.4:c.16414T>C MANE Select	NP_003473.3:p.Tyr5472His