Canonical Allele Identifier: CA479710524

Gene: KMT2D

Linked Data

• dbSNP Id: rs2120509559
• gnomAD v4: 12-49039227-G-A
• MyVariant Identifiers: chr12:g.49433010G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039227G>A , CM000674.2:g.49039227G>A	GRCh38
NC_000012.11:g.49433010G>A , CM000674.1:g.49433010G>A	GRCh37
NC_000012.10:g.47719277G>A	NCBI36
NG_027827.1:g.21098C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683043.1:n.60C>T
ENST00000683543.2:c.8361C>T	ENSP00000506726.1:p.Asn2787=
ENST00000685166.1:c.8370C>T	ENSP00000509386.1:p.Asn2790=
ENST00000689060.1:c.2380C>T
ENST00000689143.1:c.2034C>T	ENSP00000509839.1:p.Asn678=
ENST00000689944.1:c.2470C>T
ENST00000692637.1:c.8358C>T	ENSP00000509666.1:p.Asn2786=
ENST00000301067.12:c.8361C>T MANE Select	ENSP00000301067.7:p.Asn2787=
ENST00000301067.11:c.8361C>T	ENSP00000301067.7:p.Asn2787=
ENST00000549799.1:n.73C>T
NM_003482.3:c.8361C>T	NP_003473.3:p.Asn2787=
XM_005269162.3:c.8361C>T	XP_005269219.1:p.Asn2787=
XM_006719614.2:c.8370C>T	XP_006719677.1:p.Asn2790=
XM_006719616.2:c.8358C>T	XP_006719679.1:p.Asn2786=
XM_011538770.1:c.8370C>T	XP_011537072.1:p.Asn2790=
XM_011538771.1:c.8367C>T	XP_011537073.1:p.Asn2789=
XM_011538772.1:c.8361C>T	XP_011537074.1:p.Asn2787=
XM_011538773.1:c.8358C>T	XP_011537075.1:p.Asn2786=
XM_011538774.1:c.8349C>T	XP_011537076.1:p.Asn2783=
XM_011538775.1:c.8370C>T	XP_011537077.1:p.Asn2790=
XM_011538776.1:c.8277C>T	XP_011537078.1:p.Asn2759=
XR_944740.1:n.10690C>T
XM_005269162.4:c.8361C>T	XP_005269219.1:p.Asn2787=
XM_006719614.4:c.8370C>T	XP_006719677.1:p.Asn2790=
XM_006719616.3:c.8358C>T	XP_006719679.1:p.Asn2786=
XM_011538770.2:c.8370C>T	XP_011537072.1:p.Asn2790=
XM_011538771.2:c.8367C>T	XP_011537073.1:p.Asn2789=
XM_011538772.2:c.8361C>T	XP_011537074.1:p.Asn2787=
XM_011538773.2:c.8358C>T	XP_011537075.1:p.Asn2786=
XM_011538774.2:c.8349C>T	XP_011537076.1:p.Asn2783=
XM_011538776.2:c.8277C>T	XP_011537078.1:p.Asn2759=
XR_001748874.1:n.9679C>T
NM_003482.4:c.8361C>T MANE Select	NP_003473.3:p.Asn2787=