Canonical Allele Identifier: CA384676985

Gene: KMT2D

Linked Data

• dbSNP Id: rs1942370215
• MyVariant Identifiers: chr12:g.49416108T>G (hg19) ; chr12:g.49022325T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022325T>G , CM000674.2:g.49022325T>G	GRCh38
NC_000012.11:g.49416108T>G , CM000674.1:g.49416108T>G	GRCh37
NC_000012.10:g.47702375T>G	NCBI36
NG_027827.1:g.38000A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.337A>C
ENST00000681974.1:n.1039A>C
ENST00000682693.1:n.2001A>C
ENST00000682886.1:n.773A>C
ENST00000683543.2:c.16415A>C	ENSP00000506726.1:p.Asn5472Thr
ENST00000683988.1:c.338A>C	ENSP00000506939.1:p.Asn113Thr
ENST00000684428.1:c.960A>C	ENSP00000507433.1:p.Lys320Asn
ENST00000685024.1:c.1521A>C
ENST00000685166.1:c.16376A>C	ENSP00000509386.1:p.Asn5459Thr
ENST00000691932.1:c.368A>C	ENSP00000509037.1:p.Asn123Thr
ENST00000692637.1:c.16364A>C	ENSP00000509666.1:p.Asn5455Thr
ENST00000301067.12:c.16367A>C MANE Select	ENSP00000301067.7:p.Asn5456Thr
ENST00000301067.11:c.16367A>C	ENSP00000301067.7:p.Asn5456Thr
ENST00000526209.1:c.410A>C	ENSP00000435714.1:p.Asn137Thr
NM_003482.3:c.16367A>C	NP_003473.3:p.Asn5456Thr
XM_005269162.3:c.16367A>C	XP_005269219.1:p.Asn5456Thr
XM_006719614.2:c.16376A>C	XP_006719677.1:p.Asn5459Thr
XM_006719616.2:c.16364A>C	XP_006719679.1:p.Asn5455Thr
XM_011538770.1:c.16424A>C	XP_011537072.1:p.Asn5475Thr
XM_011538771.1:c.16421A>C	XP_011537073.1:p.Asn5474Thr
XM_011538772.1:c.16415A>C	XP_011537074.1:p.Asn5472Thr
XM_011538773.1:c.16412A>C	XP_011537075.1:p.Asn5471Thr
XM_011538774.1:c.16403A>C	XP_011537076.1:p.Asn5468Thr
XM_011538775.1:c.16358A>C	XP_011537077.1:p.Asn5453Thr
XM_011538776.1:c.16331A>C	XP_011537078.1:p.Asn5444Thr
XM_005269162.4:c.16367A>C	XP_005269219.1:p.Asn5456Thr
XM_006719614.4:c.16376A>C	XP_006719677.1:p.Asn5459Thr
XM_006719616.3:c.16364A>C	XP_006719679.1:p.Asn5455Thr
XM_011538770.2:c.16424A>C	XP_011537072.1:p.Asn5475Thr
XM_011538771.2:c.16421A>C	XP_011537073.1:p.Asn5474Thr
XM_011538772.2:c.16415A>C	XP_011537074.1:p.Asn5472Thr
XM_011538773.2:c.16412A>C	XP_011537075.1:p.Asn5471Thr
XM_011538774.2:c.16403A>C	XP_011537076.1:p.Asn5468Thr
XM_011538776.2:c.16331A>C	XP_011537078.1:p.Asn5444Thr
XR_001748874.1:n.16544A>C
NM_003482.4:c.16367A>C MANE Select	NP_003473.3:p.Asn5456Thr