Canonical Allele Identifier: CA384746079

Gene: KMT2D

Linked Data

• dbSNP Id: rs147706410
• MyVariant Identifiers: chr12:g.49433599T>A (hg19) ; chr12:g.49039816T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039816T>A , CM000674.2:g.49039816T>A	GRCh38
NC_000012.11:g.49433599T>A , CM000674.1:g.49433599T>A	GRCh37
NC_000012.10:g.47719866T>A	NCBI36
NG_027827.1:g.20509A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.7954A>T	ENSP00000506726.1:p.Met2652Leu
ENST00000685166.1:c.7963A>T	ENSP00000509386.1:p.Met2655Leu
ENST00000689060.1:c.1973A>T
ENST00000689143.1:c.1627A>T	ENSP00000509839.1:p.Met543Leu
ENST00000689944.1:c.2063A>T
ENST00000692637.1:c.7951A>T	ENSP00000509666.1:p.Met2651Leu
ENST00000301067.12:c.7954A>T MANE Select	ENSP00000301067.7:p.Met2652Leu
ENST00000301067.11:c.7954A>T	ENSP00000301067.7:p.Met2652Leu
NM_003482.3:c.7954A>T	NP_003473.3:p.Met2652Leu
XM_005269162.3:c.7954A>T	XP_005269219.1:p.Met2652Leu
XM_006719614.2:c.7963A>T	XP_006719677.1:p.Met2655Leu
XM_006719616.2:c.7951A>T	XP_006719679.1:p.Met2651Leu
XM_011538770.1:c.7963A>T	XP_011537072.1:p.Met2655Leu
XM_011538771.1:c.7960A>T	XP_011537073.1:p.Met2654Leu
XM_011538772.1:c.7954A>T	XP_011537074.1:p.Met2652Leu
XM_011538773.1:c.7951A>T	XP_011537075.1:p.Met2651Leu
XM_011538774.1:c.7942A>T	XP_011537076.1:p.Met2648Leu
XM_011538775.1:c.7963A>T	XP_011537077.1:p.Met2655Leu
XM_011538776.1:c.7870A>T	XP_011537078.1:p.Met2624Leu
XR_944740.1:n.10283A>T
XM_005269162.4:c.7954A>T	XP_005269219.1:p.Met2652Leu
XM_006719614.4:c.7963A>T	XP_006719677.1:p.Met2655Leu
XM_006719616.3:c.7951A>T	XP_006719679.1:p.Met2651Leu
XM_011538770.2:c.7963A>T	XP_011537072.1:p.Met2655Leu
XM_011538771.2:c.7960A>T	XP_011537073.1:p.Met2654Leu
XM_011538772.2:c.7954A>T	XP_011537074.1:p.Met2652Leu
XM_011538773.2:c.7951A>T	XP_011537075.1:p.Met2651Leu
XM_011538774.2:c.7942A>T	XP_011537076.1:p.Met2648Leu
XM_011538776.2:c.7870A>T	XP_011537078.1:p.Met2624Leu
XR_001748874.1:n.9272A>T
NM_003482.4:c.7954A>T MANE Select	NP_003473.3:p.Met2652Leu