Canonical Allele Identifier: CA384743715

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49433288C>G (hg19) ; chr12:g.49039505C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039505C>G , CM000674.2:g.49039505C>G	GRCh38
NC_000012.11:g.49433288C>G , CM000674.1:g.49433288C>G	GRCh37
NC_000012.10:g.47719555C>G	NCBI36
NG_027827.1:g.20820G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.8159G>C	ENSP00000506726.1:p.Trp2720Ser
ENST00000685166.1:c.8168G>C	ENSP00000509386.1:p.Trp2723Ser
ENST00000689060.1:c.2178G>C
ENST00000689143.1:c.1832G>C	ENSP00000509839.1:p.Trp611Ser
ENST00000689944.1:c.2268G>C
ENST00000692637.1:c.8156G>C	ENSP00000509666.1:p.Trp2719Ser
ENST00000301067.12:c.8159G>C MANE Select	ENSP00000301067.7:p.Trp2720Ser
ENST00000301067.11:c.8159G>C	ENSP00000301067.7:p.Trp2720Ser
NM_003482.3:c.8159G>C	NP_003473.3:p.Trp2720Ser
XM_005269162.3:c.8159G>C	XP_005269219.1:p.Trp2720Ser
XM_006719614.2:c.8168G>C	XP_006719677.1:p.Trp2723Ser
XM_006719616.2:c.8156G>C	XP_006719679.1:p.Trp2719Ser
XM_011538770.1:c.8168G>C	XP_011537072.1:p.Trp2723Ser
XM_011538771.1:c.8165G>C	XP_011537073.1:p.Trp2722Ser
XM_011538772.1:c.8159G>C	XP_011537074.1:p.Trp2720Ser
XM_011538773.1:c.8156G>C	XP_011537075.1:p.Trp2719Ser
XM_011538774.1:c.8147G>C	XP_011537076.1:p.Trp2716Ser
XM_011538775.1:c.8168G>C	XP_011537077.1:p.Trp2723Ser
XM_011538776.1:c.8075G>C	XP_011537078.1:p.Trp2692Ser
XR_944740.1:n.10488G>C
XM_005269162.4:c.8159G>C	XP_005269219.1:p.Trp2720Ser
XM_006719614.4:c.8168G>C	XP_006719677.1:p.Trp2723Ser
XM_006719616.3:c.8156G>C	XP_006719679.1:p.Trp2719Ser
XM_011538770.2:c.8168G>C	XP_011537072.1:p.Trp2723Ser
XM_011538771.2:c.8165G>C	XP_011537073.1:p.Trp2722Ser
XM_011538772.2:c.8159G>C	XP_011537074.1:p.Trp2720Ser
XM_011538773.2:c.8156G>C	XP_011537075.1:p.Trp2719Ser
XM_011538774.2:c.8147G>C	XP_011537076.1:p.Trp2716Ser
XM_011538776.2:c.8075G>C	XP_011537078.1:p.Trp2692Ser
XR_001748874.1:n.9477G>C
NM_003482.4:c.8159G>C MANE Select	NP_003473.3:p.Trp2720Ser