Canonical Allele Identifier: CA479520831

Gene: KMT2D

Linked Data

• dbSNP Id: rs1942353373
• gnomAD v3: 12-49022049-T-C
• gnomAD v4: 12-49022049-T-C
• MyVariant Identifiers: chr12:g.49415832T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022049T>C , CM000674.2:g.49022049T>C	GRCh38
NC_000012.11:g.49415832T>C , CM000674.1:g.49415832T>C	GRCh37
NC_000012.10:g.47702099T>C	NCBI36
NG_027827.1:g.38276A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.485A>G
ENST00000681974.1:n.1187A>G
ENST00000682693.1:n.2149A>G
ENST00000682886.1:n.921A>G
ENST00000683543.2:c.16563A>G	ENSP00000506726.1:p.Gly5521=
ENST00000683988.1:c.486A>G	ENSP00000506939.1:p.Gly162=
ENST00000684428.1:c.1108A>G	ENSP00000507433.1:n.1108A>G
ENST00000685024.1:c.1669A>G
ENST00000685166.1:c.16524A>G	ENSP00000509386.1:p.Gly5508=
ENST00000691932.1:c.516A>G	ENSP00000509037.1:p.Gly172=
ENST00000692637.1:c.16512A>G	ENSP00000509666.1:p.Gly5504=
ENST00000301067.12:c.16515A>G MANE Select	ENSP00000301067.7:p.Gly5505=
ENST00000301067.11:c.16515A>G	ENSP00000301067.7:p.Gly5505=
ENST00000526209.1:c.558A>G	ENSP00000435714.1:p.Gly186=
NM_003482.3:c.16515A>G	NP_003473.3:p.Gly5505=
XM_005269162.3:c.16515A>G	XP_005269219.1:p.Gly5505=
XM_006719614.2:c.16524A>G	XP_006719677.1:p.Gly5508=
XM_006719616.2:c.16512A>G	XP_006719679.1:p.Gly5504=
XM_011538770.1:c.16572A>G	XP_011537072.1:p.Gly5524=
XM_011538771.1:c.16569A>G	XP_011537073.1:p.Gly5523=
XM_011538772.1:c.16563A>G	XP_011537074.1:p.Gly5521=
XM_011538773.1:c.16560A>G	XP_011537075.1:p.Gly5520=
XM_011538774.1:c.16551A>G	XP_011537076.1:p.Gly5517=
XM_011538775.1:c.16506A>G	XP_011537077.1:p.Gly5502=
XM_011538776.1:c.16479A>G	XP_011537078.1:p.Gly5493=
XM_005269162.4:c.16515A>G	XP_005269219.1:p.Gly5505=
XM_006719614.4:c.16524A>G	XP_006719677.1:p.Gly5508=
XM_006719616.3:c.16512A>G	XP_006719679.1:p.Gly5504=
XM_011538770.2:c.16572A>G	XP_011537072.1:p.Gly5524=
XM_011538771.2:c.16569A>G	XP_011537073.1:p.Gly5523=
XM_011538772.2:c.16563A>G	XP_011537074.1:p.Gly5521=
XM_011538773.2:c.16560A>G	XP_011537075.1:p.Gly5520=
XM_011538774.2:c.16551A>G	XP_011537076.1:p.Gly5517=
XM_011538776.2:c.16479A>G	XP_011537078.1:p.Gly5493=
XR_001748874.1:n.16692A>G
NM_003482.4:c.16515A>G MANE Select	NP_003473.3:p.Gly5505=