Canonical Allele Identifier: CA405431482

Gene: KMT2B

Linked Data

• gnomAD v4: 19-35733767-C-T
• MyVariant Identifiers: chr19:g.36224668C>T (hg19) ; chr19:g.35733767C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733767C>T , CM000681.2:g.35733767C>T	GRCh38
NC_000019.9:g.36224668C>T , CM000681.1:g.36224668C>T	GRCh37
NC_000019.8:g.40916508C>T	NCBI36
NG_052906.1:g.20749C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000592092.2:n.1524C>T
ENST00000673918.2:c.6988C>T	ENSP00000501283.1:p.Leu2330Phe
ENST00000674114.2:c.4595C>T	ENSP00000501039.2:n.4595C>T
ENST00000684977.1:c.2249C>T	ENSP00000509384.1:n.2249C>T
ENST00000689544.1:n.2295C>T
ENST00000689929.1:c.5C>T
ENST00000691421.1:c.2185C>T	ENSP00000508674.1:p.Leu729Phe
ENST00000691855.1:c.6596C>T
ENST00000692961.1:c.6978C>T	ENSP00000509289.1:p.Pro2326=
ENST00000693175.1:c.5C>T
ENST00000693677.1:c.799C>T	ENSP00000509779.1:p.Leu267Phe
ENST00000420124.4:c.7054C>T MANE Select	ENSP00000398837.2:p.Leu2352Phe
ENST00000673918.1:c.6988C>T	ENSP00000501283.1:p.Leu2330Phe
ENST00000674114.1:c.4376C>T
ENST00000420124.2:c.7054C>T	ENSP00000398837.1:p.Leu2352Phe
ENST00000592092.1:n.434C>T
NM_014727.2:c.7054C>T	NP_055542.1:p.Leu2352Phe
XM_011527561.1:c.6988C>T	XP_011525863.1:p.Leu2330Phe
XM_011527562.1:c.7054C>T	XP_011525864.1:p.Leu2352Phe
XM_011527563.1:c.6778C>T	XP_011525865.1:p.Leu2260Phe
XM_011527561.2:c.6490C>T	XP_011525863.2:p.Leu2164Phe
XM_011527562.2:c.7054C>T	XP_011525864.1:p.Leu2352Phe
XM_017027544.1:c.6964C>T	XP_016883033.1:p.Leu2322Phe
XM_017027545.1:c.6490C>T	XP_016883034.1:p.Leu2164Phe
XM_017027546.1:c.4018C>T	XP_016883035.1:p.Leu1340Phe
NM_014727.3:c.7054C>T MANE Select	NP_055542.1:p.Leu2352Phe