Canonical Allele Identifier: CA384676496

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137704065
• MyVariant Identifiers: chr12:g.49415926T>G (hg19) ; chr12:g.49022143T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022143T>G , CM000674.2:g.49022143T>G	GRCh38
NC_000012.11:g.49415926T>G , CM000674.1:g.49415926T>G	GRCh37
NC_000012.10:g.47702193T>G	NCBI36
NG_027827.1:g.38182A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.391A>C
ENST00000681974.1:n.1093A>C
ENST00000682693.1:n.2055A>C
ENST00000682886.1:n.827A>C
ENST00000683543.2:c.16469A>C	ENSP00000506726.1:p.Asn5490Thr
ENST00000683988.1:c.392A>C	ENSP00000506939.1:p.Asn131Thr
ENST00000684428.1:c.1014A>C	ENSP00000507433.1:n.1014A>C
ENST00000685024.1:c.1575A>C
ENST00000685166.1:c.16430A>C	ENSP00000509386.1:p.Asn5477Thr
ENST00000691932.1:c.422A>C	ENSP00000509037.1:p.Asn141Thr
ENST00000692637.1:c.16418A>C	ENSP00000509666.1:p.Asn5473Thr
ENST00000301067.12:c.16421A>C MANE Select	ENSP00000301067.7:p.Asn5474Thr
ENST00000301067.11:c.16421A>C	ENSP00000301067.7:p.Asn5474Thr
ENST00000526209.1:c.464A>C	ENSP00000435714.1:p.Asn155Thr
NM_003482.3:c.16421A>C	NP_003473.3:p.Asn5474Thr
XM_005269162.3:c.16421A>C	XP_005269219.1:p.Asn5474Thr
XM_006719614.2:c.16430A>C	XP_006719677.1:p.Asn5477Thr
XM_006719616.2:c.16418A>C	XP_006719679.1:p.Asn5473Thr
XM_011538770.1:c.16478A>C	XP_011537072.1:p.Asn5493Thr
XM_011538771.1:c.16475A>C	XP_011537073.1:p.Asn5492Thr
XM_011538772.1:c.16469A>C	XP_011537074.1:p.Asn5490Thr
XM_011538773.1:c.16466A>C	XP_011537075.1:p.Asn5489Thr
XM_011538774.1:c.16457A>C	XP_011537076.1:p.Asn5486Thr
XM_011538775.1:c.16412A>C	XP_011537077.1:p.Asn5471Thr
XM_011538776.1:c.16385A>C	XP_011537078.1:p.Asn5462Thr
XM_005269162.4:c.16421A>C	XP_005269219.1:p.Asn5474Thr
XM_006719614.4:c.16430A>C	XP_006719677.1:p.Asn5477Thr
XM_006719616.3:c.16418A>C	XP_006719679.1:p.Asn5473Thr
XM_011538770.2:c.16478A>C	XP_011537072.1:p.Asn5493Thr
XM_011538771.2:c.16475A>C	XP_011537073.1:p.Asn5492Thr
XM_011538772.2:c.16469A>C	XP_011537074.1:p.Asn5490Thr
XM_011538773.2:c.16466A>C	XP_011537075.1:p.Asn5489Thr
XM_011538774.2:c.16457A>C	XP_011537076.1:p.Asn5486Thr
XM_011538776.2:c.16385A>C	XP_011537078.1:p.Asn5462Thr
XR_001748874.1:n.16598A>C
NM_003482.4:c.16421A>C MANE Select	NP_003473.3:p.Asn5474Thr