Canonical Allele Identifier: CA405431508

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36224671C>T (hg19) ; chr19:g.35733770C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733770C>T , CM000681.2:g.35733770C>T	GRCh38
NC_000019.9:g.36224671C>T , CM000681.1:g.36224671C>T	GRCh37
NC_000019.8:g.40916511C>T	NCBI36
NG_052906.1:g.20752C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000592092.2:n.1527C>T
ENST00000673918.2:c.6991C>T	ENSP00000501283.1:p.Gln2331Ter
ENST00000674114.2:c.4598C>T	ENSP00000501039.2:n.4598C>T
ENST00000684977.1:c.2252C>T	ENSP00000509384.1:n.2252C>T
ENST00000689544.1:n.2298C>T
ENST00000689929.1:c.8C>T
ENST00000691421.1:c.2188C>T	ENSP00000508674.1:p.Gln730Ter
ENST00000691855.1:c.6599C>T
ENST00000692961.1:c.6981C>T	ENSP00000509289.1:p.Ser2327=
ENST00000693175.1:c.8C>T
ENST00000693677.1:c.802C>T	ENSP00000509779.1:p.Gln268Ter
ENST00000420124.4:c.7057C>T MANE Select	ENSP00000398837.2:p.Gln2353Ter
ENST00000673918.1:c.6991C>T	ENSP00000501283.1:p.Gln2331Ter
ENST00000674114.1:c.4379C>T
ENST00000420124.2:c.7057C>T	ENSP00000398837.1:p.Gln2353Ter
ENST00000592092.1:n.437C>T
NM_014727.2:c.7057C>T	NP_055542.1:p.Gln2353Ter
XM_011527561.1:c.6991C>T	XP_011525863.1:p.Gln2331Ter
XM_011527562.1:c.7057C>T	XP_011525864.1:p.Gln2353Ter
XM_011527563.1:c.6781C>T	XP_011525865.1:p.Gln2261Ter
XM_011527561.2:c.6493C>T	XP_011525863.2:p.Gln2165Ter
XM_011527562.2:c.7057C>T	XP_011525864.1:p.Gln2353Ter
XM_017027544.1:c.6967C>T	XP_016883033.1:p.Gln2323Ter
XM_017027545.1:c.6493C>T	XP_016883034.1:p.Gln2165Ter
XM_017027546.1:c.4021C>T	XP_016883035.1:p.Gln1341Ter
NM_014727.3:c.7057C>T MANE Select	NP_055542.1:p.Gln2353Ter