Canonical Allele Identifier: CA384676886

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49416093A>C (hg19) ; chr12:g.49022310A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022310A>C , CM000674.2:g.49022310A>C	GRCh38
NC_000012.11:g.49416093A>C , CM000674.1:g.49416093A>C	GRCh37
NC_000012.10:g.47702360A>C	NCBI36
NG_027827.1:g.38015T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.352T>G
ENST00000681974.1:n.1054T>G
ENST00000682693.1:n.2016T>G
ENST00000682886.1:n.788T>G
ENST00000683543.2:c.16430T>G	ENSP00000506726.1:p.Ile5477Ser
ENST00000683988.1:c.353T>G	ENSP00000506939.1:p.Ile118Ser
ENST00000684428.1:c.975T>G	ENSP00000507433.1:n.975T>G
ENST00000685024.1:c.1536T>G
ENST00000685166.1:c.16391T>G	ENSP00000509386.1:p.Ile5464Ser
ENST00000691932.1:c.383T>G	ENSP00000509037.1:p.Ile128Ser
ENST00000692637.1:c.16379T>G	ENSP00000509666.1:p.Ile5460Ser
ENST00000301067.12:c.16382T>G MANE Select	ENSP00000301067.7:p.Ile5461Ser
ENST00000301067.11:c.16382T>G	ENSP00000301067.7:p.Ile5461Ser
ENST00000526209.1:c.425T>G	ENSP00000435714.1:p.Ile142Ser
NM_003482.3:c.16382T>G	NP_003473.3:p.Ile5461Ser
XM_005269162.3:c.16382T>G	XP_005269219.1:p.Ile5461Ser
XM_006719614.2:c.16391T>G	XP_006719677.1:p.Ile5464Ser
XM_006719616.2:c.16379T>G	XP_006719679.1:p.Ile5460Ser
XM_011538770.1:c.16439T>G	XP_011537072.1:p.Ile5480Ser
XM_011538771.1:c.16436T>G	XP_011537073.1:p.Ile5479Ser
XM_011538772.1:c.16430T>G	XP_011537074.1:p.Ile5477Ser
XM_011538773.1:c.16427T>G	XP_011537075.1:p.Ile5476Ser
XM_011538774.1:c.16418T>G	XP_011537076.1:p.Ile5473Ser
XM_011538775.1:c.16373T>G	XP_011537077.1:p.Ile5458Ser
XM_011538776.1:c.16346T>G	XP_011537078.1:p.Ile5449Ser
XM_005269162.4:c.16382T>G	XP_005269219.1:p.Ile5461Ser
XM_006719614.4:c.16391T>G	XP_006719677.1:p.Ile5464Ser
XM_006719616.3:c.16379T>G	XP_006719679.1:p.Ile5460Ser
XM_011538770.2:c.16439T>G	XP_011537072.1:p.Ile5480Ser
XM_011538771.2:c.16436T>G	XP_011537073.1:p.Ile5479Ser
XM_011538772.2:c.16430T>G	XP_011537074.1:p.Ile5477Ser
XM_011538773.2:c.16427T>G	XP_011537075.1:p.Ile5476Ser
XM_011538774.2:c.16418T>G	XP_011537076.1:p.Ile5473Ser
XM_011538776.2:c.16346T>G	XP_011537078.1:p.Ile5449Ser
XR_001748874.1:n.16559T>G
NM_003482.4:c.16382T>G MANE Select	NP_003473.3:p.Ile5461Ser