Canonical Allele Identifier: CA405428818

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36223938T>C (hg19) ; chr19:g.35733037T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733037T>C , CM000681.2:g.35733037T>C	GRCh38
NC_000019.9:g.36223938T>C , CM000681.1:g.36223938T>C	GRCh37
NC_000019.8:g.40915778T>C	NCBI36
NG_052906.1:g.20019T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.794T>C
ENST00000673918.2:c.6422T>C	ENSP00000501283.1:p.Phe2141Ser
ENST00000674114.2:c.4029T>C	ENSP00000501039.2:n.4029T>C
ENST00000684977.1:c.1706T>C	ENSP00000509384.1:p.Phe569Ser
ENST00000689544.1:n.1641T>C
ENST00000691421.1:c.1709T>C	ENSP00000508674.1:p.Phe570Ser
ENST00000691855.1:c.6030T>C
ENST00000692961.1:c.6488T>C	ENSP00000509289.1:p.Phe2163Ser
ENST00000693677.1:c.705-560T>C	ENSP00000509779.1:n.705-560T>C
ENST00000420124.4:c.6488T>C MANE Select	ENSP00000398837.2:p.Phe2163Ser
ENST00000673918.1:c.6422T>C	ENSP00000501283.1:p.Phe2141Ser
ENST00000674114.1:c.3810T>C
ENST00000420124.2:c.6488T>C	ENSP00000398837.1:p.Phe2163Ser
NM_014727.2:c.6488T>C	NP_055542.1:p.Phe2163Ser
XM_011527561.1:c.6422T>C	XP_011525863.1:p.Phe2141Ser
XM_011527562.1:c.6488T>C	XP_011525864.1:p.Phe2163Ser
XM_011527563.1:c.6212T>C	XP_011525865.1:p.Phe2071Ser
XM_011527561.2:c.5924T>C	XP_011525863.2:p.Phe1975Ser
XM_011527562.2:c.6488T>C	XP_011525864.1:p.Phe2163Ser
XM_017027544.1:c.6488T>C	XP_016883033.1:p.Phe2163Ser
XM_017027545.1:c.5924T>C	XP_016883034.1:p.Phe1975Ser
XM_017027546.1:c.3452T>C	XP_016883035.1:p.Phe1151Ser
NM_014727.3:c.6488T>C MANE Select	NP_055542.1:p.Phe2163Ser