Canonical Allele Identifier: CA479511710

Gene: KMT2D

Linked Data

• dbSNP Id: rs2120553167
• MyVariant Identifiers: chr12:g.49435924T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49042141T>A , CM000674.2:g.49042141T>A	GRCh38
NC_000012.11:g.49435924T>A , CM000674.1:g.49435924T>A	GRCh37
NC_000012.10:g.47722191T>A	NCBI36
NG_027827.1:g.18184A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650290.2:c.848A>T
ENST00000683543.2:c.6057A>T	ENSP00000506726.1:p.Ser2019=
ENST00000685166.1:c.6066A>T	ENSP00000509386.1:p.Ser2022=
ENST00000689060.1:c.169A>T
ENST00000689944.1:c.169A>T
ENST00000692637.1:c.6054A>T	ENSP00000509666.1:p.Ser2018=
ENST00000301067.12:c.6057A>T MANE Select	ENSP00000301067.7:p.Ser2019=
ENST00000301067.11:c.6057A>T	ENSP00000301067.7:p.Ser2019=
NM_003482.3:c.6057A>T	NP_003473.3:p.Ser2019=
XM_005269162.3:c.6057A>T	XP_005269219.1:p.Ser2019=
XM_006719614.2:c.6066A>T	XP_006719677.1:p.Ser2022=
XM_006719616.2:c.6054A>T	XP_006719679.1:p.Ser2018=
XM_011538770.1:c.6066A>T	XP_011537072.1:p.Ser2022=
XM_011538771.1:c.6063A>T	XP_011537073.1:p.Ser2021=
XM_011538772.1:c.6057A>T	XP_011537074.1:p.Ser2019=
XM_011538773.1:c.6054A>T	XP_011537075.1:p.Ser2018=
XM_011538774.1:c.6045A>T	XP_011537076.1:p.Ser2015=
XM_011538775.1:c.6066A>T	XP_011537077.1:p.Ser2022=
XM_011538776.1:c.6066A>T	XP_011537078.1:p.Ser2022=
XR_944740.1:n.8386A>T
XM_005269162.4:c.6057A>T	XP_005269219.1:p.Ser2019=
XM_006719614.4:c.6066A>T	XP_006719677.1:p.Ser2022=
XM_006719616.3:c.6054A>T	XP_006719679.1:p.Ser2018=
XM_011538770.2:c.6066A>T	XP_011537072.1:p.Ser2022=
XM_011538771.2:c.6063A>T	XP_011537073.1:p.Ser2021=
XM_011538772.2:c.6057A>T	XP_011537074.1:p.Ser2019=
XM_011538773.2:c.6054A>T	XP_011537075.1:p.Ser2018=
XM_011538774.2:c.6045A>T	XP_011537076.1:p.Ser2015=
XM_011538776.2:c.6066A>T	XP_011537078.1:p.Ser2022=
XR_001748874.1:n.7375A>T
NM_003482.4:c.6057A>T MANE Select	NP_003473.3:p.Ser2019=