Canonical Allele Identifier: CA384676202

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137703890
• MyVariant Identifiers: chr12:g.49415900C>A (hg19) ; chr12:g.49022117C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022117C>A , CM000674.2:g.49022117C>A	GRCh38
NC_000012.11:g.49415900C>A , CM000674.1:g.49415900C>A	GRCh37
NC_000012.10:g.47702167C>A	NCBI36
NG_027827.1:g.38208G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.417G>T
ENST00000681974.1:n.1119G>T
ENST00000682693.1:n.2081G>T
ENST00000682886.1:n.853G>T
ENST00000683543.2:c.16495G>T	ENSP00000506726.1:p.Ala5499Ser
ENST00000683988.1:c.418G>T	ENSP00000506939.1:p.Ala140Ser
ENST00000684428.1:c.1040G>T	ENSP00000507433.1:n.1040G>T
ENST00000685024.1:c.1601G>T
ENST00000685166.1:c.16456G>T	ENSP00000509386.1:p.Ala5486Ser
ENST00000691932.1:c.448G>T	ENSP00000509037.1:p.Ala150Ser
ENST00000692637.1:c.16444G>T	ENSP00000509666.1:p.Ala5482Ser
ENST00000301067.12:c.16447G>T MANE Select	ENSP00000301067.7:p.Ala5483Ser
ENST00000301067.11:c.16447G>T	ENSP00000301067.7:p.Ala5483Ser
ENST00000526209.1:c.490G>T	ENSP00000435714.1:p.Ala164Ser
NM_003482.3:c.16447G>T	NP_003473.3:p.Ala5483Ser
XM_005269162.3:c.16447G>T	XP_005269219.1:p.Ala5483Ser
XM_006719614.2:c.16456G>T	XP_006719677.1:p.Ala5486Ser
XM_006719616.2:c.16444G>T	XP_006719679.1:p.Ala5482Ser
XM_011538770.1:c.16504G>T	XP_011537072.1:p.Ala5502Ser
XM_011538771.1:c.16501G>T	XP_011537073.1:p.Ala5501Ser
XM_011538772.1:c.16495G>T	XP_011537074.1:p.Ala5499Ser
XM_011538773.1:c.16492G>T	XP_011537075.1:p.Ala5498Ser
XM_011538774.1:c.16483G>T	XP_011537076.1:p.Ala5495Ser
XM_011538775.1:c.16438G>T	XP_011537077.1:p.Ala5480Ser
XM_011538776.1:c.16411G>T	XP_011537078.1:p.Ala5471Ser
XM_005269162.4:c.16447G>T	XP_005269219.1:p.Ala5483Ser
XM_006719614.4:c.16456G>T	XP_006719677.1:p.Ala5486Ser
XM_006719616.3:c.16444G>T	XP_006719679.1:p.Ala5482Ser
XM_011538770.2:c.16504G>T	XP_011537072.1:p.Ala5502Ser
XM_011538771.2:c.16501G>T	XP_011537073.1:p.Ala5501Ser
XM_011538772.2:c.16495G>T	XP_011537074.1:p.Ala5499Ser
XM_011538773.2:c.16492G>T	XP_011537075.1:p.Ala5498Ser
XM_011538774.2:c.16483G>T	XP_011537076.1:p.Ala5495Ser
XM_011538776.2:c.16411G>T	XP_011537078.1:p.Ala5471Ser
XR_001748874.1:n.16624G>T
NM_003482.4:c.16447G>T MANE Select	NP_003473.3:p.Ala5483Ser