Canonical Allele Identifier: CA405418942

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36220935T>C (hg19) ; chr19:g.35730034T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35730034T>C , CM000681.2:g.35730034T>C	GRCh38
NC_000019.9:g.36220935T>C , CM000681.1:g.36220935T>C	GRCh37
NC_000019.8:g.40912775T>C	NCBI36
NG_052906.1:g.17016T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673918.2:c.4919T>C	ENSP00000501283.1:p.Phe1640Ser
ENST00000674114.2:c.2526T>C	ENSP00000501039.2:n.2526T>C
ENST00000684977.1:c.203T>C	ENSP00000509384.1:p.Phe68Ser
ENST00000685168.1:c.411T>C
ENST00000689544.1:n.138T>C
ENST00000691421.1:c.206T>C	ENSP00000508674.1:p.Phe69Ser
ENST00000691855.1:c.4527T>C
ENST00000692961.1:c.4985T>C	ENSP00000509289.1:p.Phe1662Ser
ENST00000420124.4:c.4985T>C MANE Select	ENSP00000398837.2:p.Phe1662Ser
ENST00000673918.1:c.4919T>C	ENSP00000501283.1:p.Phe1640Ser
ENST00000674114.1:c.2307T>C
ENST00000420124.2:c.4985T>C	ENSP00000398837.1:p.Phe1662Ser
NM_014727.2:c.4985T>C	NP_055542.1:p.Phe1662Ser
XM_011527561.1:c.4919T>C	XP_011525863.1:p.Phe1640Ser
XM_011527562.1:c.4985T>C	XP_011525864.1:p.Phe1662Ser
XM_011527563.1:c.4709T>C	XP_011525865.1:p.Phe1570Ser
XM_011527561.2:c.4421T>C	XP_011525863.2:p.Phe1474Ser
XM_011527562.2:c.4985T>C	XP_011525864.1:p.Phe1662Ser
XM_017027544.1:c.4985T>C	XP_016883033.1:p.Phe1662Ser
XM_017027545.1:c.4421T>C	XP_016883034.1:p.Phe1474Ser
XM_017027546.1:c.1949T>C	XP_016883035.1:p.Phe650Ser
NM_014727.3:c.4985T>C MANE Select	NP_055542.1:p.Phe1662Ser