Canonical Allele Identifier: CA384677109

Gene: KMT2D

Linked Data

• gnomAD v4: 12-49022341-A-G
• MyVariant Identifiers: chr12:g.49416124A>G (hg19) ; chr12:g.49022341A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022341A>G , CM000674.2:g.49022341A>G	GRCh38
NC_000012.11:g.49416124A>G , CM000674.1:g.49416124A>G	GRCh37
NC_000012.10:g.47702391A>G	NCBI36
NG_027827.1:g.37984T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.321T>C
ENST00000681974.1:n.1023T>C
ENST00000682693.1:n.1985T>C
ENST00000682886.1:n.757T>C
ENST00000683543.2:c.16399T>C	ENSP00000506726.1:p.Tyr5467His
ENST00000683988.1:c.322T>C	ENSP00000506939.1:p.Tyr108His
ENST00000684428.1:c.944T>C	ENSP00000507433.1:p.Leu315Pro
ENST00000685024.1:c.1505T>C
ENST00000685166.1:c.16360T>C	ENSP00000509386.1:p.Tyr5454His
ENST00000691932.1:c.352T>C	ENSP00000509037.1:p.Tyr118His
ENST00000692637.1:c.16348T>C	ENSP00000509666.1:p.Tyr5450His
ENST00000301067.12:c.16351T>C MANE Select	ENSP00000301067.7:p.Tyr5451His
ENST00000301067.11:c.16351T>C	ENSP00000301067.7:p.Tyr5451His
ENST00000526209.1:c.394T>C	ENSP00000435714.1:p.Tyr132His
NM_003482.3:c.16351T>C	NP_003473.3:p.Tyr5451His
XM_005269162.3:c.16351T>C	XP_005269219.1:p.Tyr5451His
XM_006719614.2:c.16360T>C	XP_006719677.1:p.Tyr5454His
XM_006719616.2:c.16348T>C	XP_006719679.1:p.Tyr5450His
XM_011538770.1:c.16408T>C	XP_011537072.1:p.Tyr5470His
XM_011538771.1:c.16405T>C	XP_011537073.1:p.Tyr5469His
XM_011538772.1:c.16399T>C	XP_011537074.1:p.Tyr5467His
XM_011538773.1:c.16396T>C	XP_011537075.1:p.Tyr5466His
XM_011538774.1:c.16387T>C	XP_011537076.1:p.Tyr5463His
XM_011538775.1:c.16342T>C	XP_011537077.1:p.Tyr5448His
XM_011538776.1:c.16315T>C	XP_011537078.1:p.Tyr5439His
XM_005269162.4:c.16351T>C	XP_005269219.1:p.Tyr5451His
XM_006719614.4:c.16360T>C	XP_006719677.1:p.Tyr5454His
XM_006719616.3:c.16348T>C	XP_006719679.1:p.Tyr5450His
XM_011538770.2:c.16408T>C	XP_011537072.1:p.Tyr5470His
XM_011538771.2:c.16405T>C	XP_011537073.1:p.Tyr5469His
XM_011538772.2:c.16399T>C	XP_011537074.1:p.Tyr5467His
XM_011538773.2:c.16396T>C	XP_011537075.1:p.Tyr5466His
XM_011538774.2:c.16387T>C	XP_011537076.1:p.Tyr5463His
XM_011538776.2:c.16315T>C	XP_011537078.1:p.Tyr5439His
XR_001748874.1:n.16528T>C
NM_003482.4:c.16351T>C MANE Select	NP_003473.3:p.Tyr5451His