Canonical Allele Identifier: CA405418903

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36220925C>T (hg19) ; chr19:g.35730024C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35730024C>T , CM000681.2:g.35730024C>T	GRCh38
NC_000019.9:g.36220925C>T , CM000681.1:g.36220925C>T	GRCh37
NC_000019.8:g.40912765C>T	NCBI36
NG_052906.1:g.17006C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673918.2:c.4909C>T	ENSP00000501283.1:p.Leu1637Phe
ENST00000674114.2:c.2516C>T	ENSP00000501039.2:n.2516C>T
ENST00000684977.1:c.193C>T	ENSP00000509384.1:p.Leu65Phe
ENST00000685168.1:c.401C>T
ENST00000689544.1:n.128C>T
ENST00000691421.1:c.196C>T	ENSP00000508674.1:p.Leu66Phe
ENST00000691855.1:c.4517C>T
ENST00000692961.1:c.4975C>T	ENSP00000509289.1:p.Leu1659Phe
ENST00000420124.4:c.4975C>T MANE Select	ENSP00000398837.2:p.Leu1659Phe
ENST00000673918.1:c.4909C>T	ENSP00000501283.1:p.Leu1637Phe
ENST00000674114.1:c.2297C>T
ENST00000420124.2:c.4975C>T	ENSP00000398837.1:p.Leu1659Phe
NM_014727.2:c.4975C>T	NP_055542.1:p.Leu1659Phe
XM_011527561.1:c.4909C>T	XP_011525863.1:p.Leu1637Phe
XM_011527562.1:c.4975C>T	XP_011525864.1:p.Leu1659Phe
XM_011527563.1:c.4699C>T	XP_011525865.1:p.Leu1567Phe
XM_011527561.2:c.4411C>T	XP_011525863.2:p.Leu1471Phe
XM_011527562.2:c.4975C>T	XP_011525864.1:p.Leu1659Phe
XM_017027544.1:c.4975C>T	XP_016883033.1:p.Leu1659Phe
XM_017027545.1:c.4411C>T	XP_016883034.1:p.Leu1471Phe
XM_017027546.1:c.1939C>T	XP_016883035.1:p.Leu647Phe
NM_014727.3:c.4975C>T MANE Select	NP_055542.1:p.Leu1659Phe