Canonical Allele Identifier: CA384743122

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49433126C>G (hg19) ; chr12:g.49039343C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039343C>G , CM000674.2:g.49039343C>G	GRCh38
NC_000012.11:g.49433126C>G , CM000674.1:g.49433126C>G	GRCh37
NC_000012.10:g.47719393C>G	NCBI36
NG_027827.1:g.20982G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.8245G>C	ENSP00000506726.1:p.Val2749Leu
ENST00000685166.1:c.8254G>C	ENSP00000509386.1:p.Val2752Leu
ENST00000689060.1:c.2264G>C
ENST00000689143.1:c.1918G>C	ENSP00000509839.1:p.Val640Leu
ENST00000689944.1:c.2354G>C
ENST00000692637.1:c.8242G>C	ENSP00000509666.1:p.Val2748Leu
ENST00000301067.12:c.8245G>C MANE Select	ENSP00000301067.7:p.Val2749Leu
ENST00000301067.11:c.8245G>C	ENSP00000301067.7:p.Val2749Leu
NM_003482.3:c.8245G>C	NP_003473.3:p.Val2749Leu
XM_005269162.3:c.8245G>C	XP_005269219.1:p.Val2749Leu
XM_006719614.2:c.8254G>C	XP_006719677.1:p.Val2752Leu
XM_006719616.2:c.8242G>C	XP_006719679.1:p.Val2748Leu
XM_011538770.1:c.8254G>C	XP_011537072.1:p.Val2752Leu
XM_011538771.1:c.8251G>C	XP_011537073.1:p.Val2751Leu
XM_011538772.1:c.8245G>C	XP_011537074.1:p.Val2749Leu
XM_011538773.1:c.8242G>C	XP_011537075.1:p.Val2748Leu
XM_011538774.1:c.8233G>C	XP_011537076.1:p.Val2745Leu
XM_011538775.1:c.8254G>C	XP_011537077.1:p.Val2752Leu
XM_011538776.1:c.8161G>C	XP_011537078.1:p.Val2721Leu
XR_944740.1:n.10574G>C
XM_005269162.4:c.8245G>C	XP_005269219.1:p.Val2749Leu
XM_006719614.4:c.8254G>C	XP_006719677.1:p.Val2752Leu
XM_006719616.3:c.8242G>C	XP_006719679.1:p.Val2748Leu
XM_011538770.2:c.8254G>C	XP_011537072.1:p.Val2752Leu
XM_011538771.2:c.8251G>C	XP_011537073.1:p.Val2751Leu
XM_011538772.2:c.8245G>C	XP_011537074.1:p.Val2749Leu
XM_011538773.2:c.8242G>C	XP_011537075.1:p.Val2748Leu
XM_011538774.2:c.8233G>C	XP_011537076.1:p.Val2745Leu
XM_011538776.2:c.8161G>C	XP_011537078.1:p.Val2721Leu
XR_001748874.1:n.9563G>C
NM_003482.4:c.8245G>C MANE Select	NP_003473.3:p.Val2749Leu