Canonical Allele Identifier: CA405394608

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35721235G>C , CM000681.2:g.35721235G>C	GRCh38
NC_000019.9:g.36212137G>C , CM000681.1:g.36212137G>C	GRCh37
NC_000019.8:g.40903977G>C	NCBI36
NG_052906.1:g.8217G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673918.2:c.1822G>C	ENSP00000501283.1:p.Ala608Pro
ENST00000687718.1:c.*1389G>C	ENSP00000510535.1:n.*1389G>C
ENST00000689139.1:c.1386G>C
ENST00000691855.1:c.1386G>C
ENST00000692961.1:c.1888G>C	ENSP00000509289.1:p.Ala630Pro
ENST00000420124.4:c.1888G>C MANE Select	ENSP00000398837.2:p.Ala630Pro
ENST00000673918.1:c.1822G>C	ENSP00000501283.1:p.Ala608Pro
ENST00000420124.2:c.1888G>C	ENSP00000398837.1:p.Ala630Pro
ENST00000606995.2:n.40-139G>C
NM_014727.2:c.1888G>C	NP_055542.1:p.Ala630Pro
XM_011527561.1:c.1822G>C	XP_011525863.1:p.Ala608Pro
XM_011527562.1:c.1888G>C	XP_011525864.1:p.Ala630Pro
XM_011527563.1:c.1888G>C	XP_011525865.1:p.Ala630Pro
XR_935878.1:n.1912G>C
XM_011527561.2:c.1324G>C	XP_011525863.2:p.Ala442Pro
XM_011527562.2:c.1888G>C	XP_011525864.1:p.Ala630Pro
XM_017027544.1:c.1888G>C	XP_016883033.1:p.Ala630Pro
XM_017027545.1:c.1324G>C	XP_016883034.1:p.Ala442Pro
XR_935878.2:n.2089G>C
NM_014727.3:c.1888G>C MANE Select	NP_055542.1:p.Ala630Pro