Canonical Allele Identifier: CA405419248

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 2843628
• ClinVar RCV Id: RCV003724036
• MyVariant Identifiers: chr19:g.36220985A>G (hg19) ; chr19:g.35730084A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35730084A>G , CM000681.2:g.35730084A>G	GRCh38
NC_000019.9:g.36220985A>G , CM000681.1:g.36220985A>G	GRCh37
NC_000019.8:g.40912825A>G	NCBI36
NG_052906.1:g.17066A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673918.2:c.4969A>G	ENSP00000501283.1:p.Lys1657Glu
ENST00000674114.2:c.2576A>G	ENSP00000501039.2:n.2576A>G
ENST00000684977.1:c.253A>G	ENSP00000509384.1:p.Lys85Glu
ENST00000685168.1:c.461A>G
ENST00000689544.1:n.188A>G
ENST00000691421.1:c.256A>G	ENSP00000508674.1:p.Lys86Glu
ENST00000691855.1:c.4577A>G
ENST00000692961.1:c.5035A>G	ENSP00000509289.1:p.Lys1679Glu
ENST00000420124.4:c.5035A>G MANE Select	ENSP00000398837.2:p.Lys1679Glu
ENST00000673918.1:c.4969A>G	ENSP00000501283.1:p.Lys1657Glu
ENST00000674114.1:c.2357A>G
ENST00000420124.2:c.5035A>G	ENSP00000398837.1:p.Lys1679Glu
NM_014727.2:c.5035A>G	NP_055542.1:p.Lys1679Glu
XM_011527561.1:c.4969A>G	XP_011525863.1:p.Lys1657Glu
XM_011527562.1:c.5035A>G	XP_011525864.1:p.Lys1679Glu
XM_011527563.1:c.4759A>G	XP_011525865.1:p.Lys1587Glu
XM_011527561.2:c.4471A>G	XP_011525863.2:p.Lys1491Glu
XM_011527562.2:c.5035A>G	XP_011525864.1:p.Lys1679Glu
XM_017027544.1:c.5035A>G	XP_016883033.1:p.Lys1679Glu
XM_017027545.1:c.4471A>G	XP_016883034.1:p.Lys1491Glu
XM_017027546.1:c.1999A>G	XP_016883035.1:p.Lys667Glu
NM_014727.3:c.5035A>G MANE Select	NP_055542.1:p.Lys1679Glu