Canonical Allele Identifier: CA479520929

Gene: KMT2D

Linked Data

• dbSNP Id: rs1230848163
• gnomAD v2: 12-49415925-G-A
• gnomAD v4: 12-49022142-G-A
• MyVariant Identifiers: chr12:g.49415925G>A (hg19) ; chr12:g.49022142G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022142G>A , CM000674.2:g.49022142G>A	GRCh38
NC_000012.11:g.49415925G>A , CM000674.1:g.49415925G>A	GRCh37
NC_000012.10:g.47702192G>A	NCBI36
NG_027827.1:g.38183C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.392C>T
ENST00000681974.1:n.1094C>T
ENST00000682693.1:n.2056C>T
ENST00000682886.1:n.828C>T
ENST00000683543.2:c.16470C>T	ENSP00000506726.1:p.Asn5490=
ENST00000683988.1:c.393C>T	ENSP00000506939.1:p.Asn131=
ENST00000684428.1:c.1015C>T	ENSP00000507433.1:n.1015C>T
ENST00000685024.1:c.1576C>T
ENST00000685166.1:c.16431C>T	ENSP00000509386.1:p.Asn5477=
ENST00000691932.1:c.423C>T	ENSP00000509037.1:p.Asn141=
ENST00000692637.1:c.16419C>T	ENSP00000509666.1:p.Asn5473=
ENST00000301067.12:c.16422C>T MANE Select	ENSP00000301067.7:p.Asn5474=
ENST00000301067.11:c.16422C>T	ENSP00000301067.7:p.Asn5474=
ENST00000526209.1:c.465C>T	ENSP00000435714.1:p.Asn155=
NM_003482.3:c.16422C>T	NP_003473.3:p.Asn5474=
XM_005269162.3:c.16422C>T	XP_005269219.1:p.Asn5474=
XM_006719614.2:c.16431C>T	XP_006719677.1:p.Asn5477=
XM_006719616.2:c.16419C>T	XP_006719679.1:p.Asn5473=
XM_011538770.1:c.16479C>T	XP_011537072.1:p.Asn5493=
XM_011538771.1:c.16476C>T	XP_011537073.1:p.Asn5492=
XM_011538772.1:c.16470C>T	XP_011537074.1:p.Asn5490=
XM_011538773.1:c.16467C>T	XP_011537075.1:p.Asn5489=
XM_011538774.1:c.16458C>T	XP_011537076.1:p.Asn5486=
XM_011538775.1:c.16413C>T	XP_011537077.1:p.Asn5471=
XM_011538776.1:c.16386C>T	XP_011537078.1:p.Asn5462=
XM_005269162.4:c.16422C>T	XP_005269219.1:p.Asn5474=
XM_006719614.4:c.16431C>T	XP_006719677.1:p.Asn5477=
XM_006719616.3:c.16419C>T	XP_006719679.1:p.Asn5473=
XM_011538770.2:c.16479C>T	XP_011537072.1:p.Asn5493=
XM_011538771.2:c.16476C>T	XP_011537073.1:p.Asn5492=
XM_011538772.2:c.16470C>T	XP_011537074.1:p.Asn5490=
XM_011538773.2:c.16467C>T	XP_011537075.1:p.Asn5489=
XM_011538774.2:c.16458C>T	XP_011537076.1:p.Asn5486=
XM_011538776.2:c.16386C>T	XP_011537078.1:p.Asn5462=
XR_001748874.1:n.16599C>T
NM_003482.4:c.16422C>T MANE Select	NP_003473.3:p.Asn5474=