Canonical Allele Identifier: CA405418992

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36220943A>T (hg19) ; chr19:g.35730042A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35730042A>T , CM000681.2:g.35730042A>T	GRCh38
NC_000019.9:g.36220943A>T , CM000681.1:g.36220943A>T	GRCh37
NC_000019.8:g.40912783A>T	NCBI36
NG_052906.1:g.17024A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000673918.2:c.4927A>T	ENSP00000501283.1:p.Met1643Leu
ENST00000674114.2:c.2534A>T	ENSP00000501039.2:n.2534A>T
ENST00000684977.1:c.211A>T	ENSP00000509384.1:p.Met71Leu
ENST00000685168.1:c.419A>T
ENST00000689544.1:n.146A>T
ENST00000691421.1:c.214A>T	ENSP00000508674.1:p.Met72Leu
ENST00000691855.1:c.4535A>T
ENST00000692961.1:c.4993A>T	ENSP00000509289.1:p.Met1665Leu
ENST00000420124.4:c.4993A>T MANE Select	ENSP00000398837.2:p.Met1665Leu
ENST00000673918.1:c.4927A>T	ENSP00000501283.1:p.Met1643Leu
ENST00000674114.1:c.2315A>T
ENST00000420124.2:c.4993A>T	ENSP00000398837.1:p.Met1665Leu
NM_014727.2:c.4993A>T	NP_055542.1:p.Met1665Leu
XM_011527561.1:c.4927A>T	XP_011525863.1:p.Met1643Leu
XM_011527562.1:c.4993A>T	XP_011525864.1:p.Met1665Leu
XM_011527563.1:c.4717A>T	XP_011525865.1:p.Met1573Leu
XM_011527561.2:c.4429A>T	XP_011525863.2:p.Met1477Leu
XM_011527562.2:c.4993A>T	XP_011525864.1:p.Met1665Leu
XM_017027544.1:c.4993A>T	XP_016883033.1:p.Met1665Leu
XM_017027545.1:c.4429A>T	XP_016883034.1:p.Met1477Leu
XM_017027546.1:c.1957A>T	XP_016883035.1:p.Met653Leu
NM_014727.3:c.4993A>T MANE Select	NP_055542.1:p.Met1665Leu