Canonical Allele Identifier: CA384675776

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137703609
• gnomAD v4: 12-49022071-G-C
• MyVariant Identifiers: chr12:g.49415854G>C (hg19) ; chr12:g.49022071G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022071G>C , CM000674.2:g.49022071G>C	GRCh38
NC_000012.11:g.49415854G>C , CM000674.1:g.49415854G>C	GRCh37
NC_000012.10:g.47702121G>C	NCBI36
NG_027827.1:g.38254C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.463C>G
ENST00000681974.1:n.1165C>G
ENST00000682693.1:n.2127C>G
ENST00000682886.1:n.899C>G
ENST00000683543.2:c.16541C>G	ENSP00000506726.1:p.Ser5514Cys
ENST00000683988.1:c.464C>G	ENSP00000506939.1:p.Ser155Cys
ENST00000684428.1:c.1086C>G	ENSP00000507433.1:n.1086C>G
ENST00000685024.1:c.1647C>G
ENST00000685166.1:c.16502C>G	ENSP00000509386.1:p.Ser5501Cys
ENST00000691932.1:c.494C>G	ENSP00000509037.1:p.Ser165Cys
ENST00000692637.1:c.16490C>G	ENSP00000509666.1:p.Ser5497Cys
ENST00000301067.12:c.16493C>G MANE Select	ENSP00000301067.7:p.Ser5498Cys
ENST00000301067.11:c.16493C>G	ENSP00000301067.7:p.Ser5498Cys
ENST00000526209.1:c.536C>G	ENSP00000435714.1:p.Ser179Cys
NM_003482.3:c.16493C>G	NP_003473.3:p.Ser5498Cys
XM_005269162.3:c.16493C>G	XP_005269219.1:p.Ser5498Cys
XM_006719614.2:c.16502C>G	XP_006719677.1:p.Ser5501Cys
XM_006719616.2:c.16490C>G	XP_006719679.1:p.Ser5497Cys
XM_011538770.1:c.16550C>G	XP_011537072.1:p.Ser5517Cys
XM_011538771.1:c.16547C>G	XP_011537073.1:p.Ser5516Cys
XM_011538772.1:c.16541C>G	XP_011537074.1:p.Ser5514Cys
XM_011538773.1:c.16538C>G	XP_011537075.1:p.Ser5513Cys
XM_011538774.1:c.16529C>G	XP_011537076.1:p.Ser5510Cys
XM_011538775.1:c.16484C>G	XP_011537077.1:p.Ser5495Cys
XM_011538776.1:c.16457C>G	XP_011537078.1:p.Ser5486Cys
XM_005269162.4:c.16493C>G	XP_005269219.1:p.Ser5498Cys
XM_006719614.4:c.16502C>G	XP_006719677.1:p.Ser5501Cys
XM_006719616.3:c.16490C>G	XP_006719679.1:p.Ser5497Cys
XM_011538770.2:c.16550C>G	XP_011537072.1:p.Ser5517Cys
XM_011538771.2:c.16547C>G	XP_011537073.1:p.Ser5516Cys
XM_011538772.2:c.16541C>G	XP_011537074.1:p.Ser5514Cys
XM_011538773.2:c.16538C>G	XP_011537075.1:p.Ser5513Cys
XM_011538774.2:c.16529C>G	XP_011537076.1:p.Ser5510Cys
XM_011538776.2:c.16457C>G	XP_011537078.1:p.Ser5486Cys
XR_001748874.1:n.16670C>G
NM_003482.4:c.16493C>G MANE Select	NP_003473.3:p.Ser5498Cys