Canonical Allele Identifier: CA405375651

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35718341T>C , CM000681.2:g.35718341T>C	GRCh38
NC_000019.9:g.36209243T>C , CM000681.1:g.36209243T>C	GRCh37
NC_000019.8:g.40901083T>C	NCBI36
NG_052906.1:g.5323T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673918.2:c.323T>C	ENSP00000501283.1:p.Val108Ala
ENST00000687718.1:c.323T>C	ENSP00000510535.1:p.Val108Ala
ENST00000692961.1:c.323T>C	ENSP00000509289.1:p.Val108Ala
ENST00000420124.4:c.323T>C MANE Select	ENSP00000398837.2:p.Val108Ala
ENST00000673918.1:c.323T>C	ENSP00000501283.1:p.Val108Ala
ENST00000420124.2:c.323T>C	ENSP00000398837.1:p.Val108Ala
NM_014727.2:c.323T>C	NP_055542.1:p.Val108Ala
XM_011527561.1:c.323T>C	XP_011525863.1:p.Val108Ala
XM_011527562.1:c.323T>C	XP_011525864.1:p.Val108Ala
XM_011527563.1:c.323T>C	XP_011525865.1:p.Val108Ala
XR_935878.1:n.347T>C
XM_011527561.2:c.-176T>C	XP_011525863.2:n.-176T>C
XM_011527562.2:c.323T>C	XP_011525864.1:p.Val108Ala
XM_017027544.1:c.323T>C	XP_016883033.1:p.Val108Ala
XM_017027545.1:c.-169T>C	XP_016883034.1:n.-169T>C
XR_935878.2:n.524T>C
NM_014727.3:c.323T>C MANE Select	NP_055542.1:p.Val108Ala