Canonical Allele Identifier: CA384743318

Gene: KMT2D

Linked Data

• dbSNP Id: rs1257307993
• gnomAD v2: 12-49433235-G-A
• gnomAD v4: 12-49039452-G-A
• MyVariant Identifiers: chr12:g.49433235G>A (hg19) ; chr12:g.49039452G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039452G>A , CM000674.2:g.49039452G>A	GRCh38
NC_000012.11:g.49433235G>A , CM000674.1:g.49433235G>A	GRCh37
NC_000012.10:g.47719502G>A	NCBI36
NG_027827.1:g.20873C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.8212C>T	ENSP00000506726.1:p.Pro2738Ser
ENST00000685166.1:c.8221C>T	ENSP00000509386.1:p.Pro2741Ser
ENST00000689060.1:c.2231C>T
ENST00000689143.1:c.1885C>T	ENSP00000509839.1:p.Pro629Ser
ENST00000689944.1:c.2321C>T
ENST00000692637.1:c.8209C>T	ENSP00000509666.1:p.Pro2737Ser
ENST00000301067.12:c.8212C>T MANE Select	ENSP00000301067.7:p.Pro2738Ser
ENST00000301067.11:c.8212C>T	ENSP00000301067.7:p.Pro2738Ser
NM_003482.3:c.8212C>T	NP_003473.3:p.Pro2738Ser
XM_005269162.3:c.8212C>T	XP_005269219.1:p.Pro2738Ser
XM_006719614.2:c.8221C>T	XP_006719677.1:p.Pro2741Ser
XM_006719616.2:c.8209C>T	XP_006719679.1:p.Pro2737Ser
XM_011538770.1:c.8221C>T	XP_011537072.1:p.Pro2741Ser
XM_011538771.1:c.8218C>T	XP_011537073.1:p.Pro2740Ser
XM_011538772.1:c.8212C>T	XP_011537074.1:p.Pro2738Ser
XM_011538773.1:c.8209C>T	XP_011537075.1:p.Pro2737Ser
XM_011538774.1:c.8200C>T	XP_011537076.1:p.Pro2734Ser
XM_011538775.1:c.8221C>T	XP_011537077.1:p.Pro2741Ser
XM_011538776.1:c.8128C>T	XP_011537078.1:p.Pro2710Ser
XR_944740.1:n.10541C>T
XM_005269162.4:c.8212C>T	XP_005269219.1:p.Pro2738Ser
XM_006719614.4:c.8221C>T	XP_006719677.1:p.Pro2741Ser
XM_006719616.3:c.8209C>T	XP_006719679.1:p.Pro2737Ser
XM_011538770.2:c.8221C>T	XP_011537072.1:p.Pro2741Ser
XM_011538771.2:c.8218C>T	XP_011537073.1:p.Pro2740Ser
XM_011538772.2:c.8212C>T	XP_011537074.1:p.Pro2738Ser
XM_011538773.2:c.8209C>T	XP_011537075.1:p.Pro2737Ser
XM_011538774.2:c.8200C>T	XP_011537076.1:p.Pro2734Ser
XM_011538776.2:c.8128C>T	XP_011537078.1:p.Pro2710Ser
XR_001748874.1:n.9530C>T
NM_003482.4:c.8212C>T MANE Select	NP_003473.3:p.Pro2738Ser