Canonical Allele Identifier: CA405429644

Gene: KMT2B

Linked Data

• dbSNP Id: rs1288487238
• MyVariant Identifiers: chr19:g.36224087C>G (hg19) ; chr19:g.35733186C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733186C>G , CM000681.2:g.35733186C>G	GRCh38
NC_000019.9:g.36224087C>G , CM000681.1:g.36224087C>G	GRCh37
NC_000019.8:g.40915927C>G	NCBI36
NG_052906.1:g.20168C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.943C>G
ENST00000673918.2:c.6571C>G	ENSP00000501283.1:p.Pro2191Ala
ENST00000674114.2:c.4178C>G	ENSP00000501039.2:n.4178C>G
ENST00000684977.1:c.1855C>G	ENSP00000509384.1:p.Pro619Ala
ENST00000689544.1:n.1790C>G
ENST00000691421.1:c.1858C>G	ENSP00000508674.1:p.Pro620Ala
ENST00000691855.1:c.6179C>G
ENST00000692961.1:c.6637C>G	ENSP00000509289.1:p.Pro2213Ala
ENST00000693677.1:c.705-411C>G	ENSP00000509779.1:n.705-411C>G
ENST00000420124.4:c.6637C>G MANE Select	ENSP00000398837.2:p.Pro2213Ala
ENST00000673918.1:c.6571C>G	ENSP00000501283.1:p.Pro2191Ala
ENST00000674114.1:c.3959C>G
ENST00000420124.2:c.6637C>G	ENSP00000398837.1:p.Pro2213Ala
NM_014727.2:c.6637C>G	NP_055542.1:p.Pro2213Ala
XM_011527561.1:c.6571C>G	XP_011525863.1:p.Pro2191Ala
XM_011527562.1:c.6637C>G	XP_011525864.1:p.Pro2213Ala
XM_011527563.1:c.6361C>G	XP_011525865.1:p.Pro2121Ala
XM_011527561.2:c.6073C>G	XP_011525863.2:p.Pro2025Ala
XM_011527562.2:c.6637C>G	XP_011525864.1:p.Pro2213Ala
XM_017027544.1:c.6637C>G	XP_016883033.1:p.Pro2213Ala
XM_017027545.1:c.6073C>G	XP_016883034.1:p.Pro2025Ala
XM_017027546.1:c.3601C>G	XP_016883035.1:p.Pro1201Ala
NM_014727.3:c.6637C>G MANE Select	NP_055542.1:p.Pro2213Ala