Canonical Allele Identifier: CA405425522

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36223518G>T (hg19) ; chr19:g.35732617G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732617G>T , CM000681.2:g.35732617G>T	GRCh38
NC_000019.9:g.36223518G>T , CM000681.1:g.36223518G>T	GRCh37
NC_000019.8:g.40915358G>T	NCBI36
NG_052906.1:g.19599G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.374G>T
ENST00000673918.2:c.6002G>T	ENSP00000501283.1:p.Ser2001Ile
ENST00000674114.2:c.3609G>T	ENSP00000501039.2:n.3609G>T
ENST00000684977.1:c.1286G>T	ENSP00000509384.1:p.Ser429Ile
ENST00000689544.1:n.1221G>T
ENST00000691421.1:c.1289G>T	ENSP00000508674.1:p.Ser430Ile
ENST00000691855.1:c.5610G>T
ENST00000692961.1:c.6068G>T	ENSP00000509289.1:p.Ser2023Ile
ENST00000693677.1:c.704+288G>T	ENSP00000509779.1:n.704+288G>T
ENST00000420124.4:c.6068G>T MANE Select	ENSP00000398837.2:p.Ser2023Ile
ENST00000673918.1:c.6002G>T	ENSP00000501283.1:p.Ser2001Ile
ENST00000674114.1:c.3390G>T
ENST00000420124.2:c.6068G>T	ENSP00000398837.1:p.Ser2023Ile
NM_014727.2:c.6068G>T	NP_055542.1:p.Ser2023Ile
XM_011527561.1:c.6002G>T	XP_011525863.1:p.Ser2001Ile
XM_011527562.1:c.6068G>T	XP_011525864.1:p.Ser2023Ile
XM_011527563.1:c.5792G>T	XP_011525865.1:p.Ser1931Ile
XM_011527561.2:c.5504G>T	XP_011525863.2:p.Ser1835Ile
XM_011527562.2:c.6068G>T	XP_011525864.1:p.Ser2023Ile
XM_017027544.1:c.6068G>T	XP_016883033.1:p.Ser2023Ile
XM_017027545.1:c.5504G>T	XP_016883034.1:p.Ser1835Ile
XM_017027546.1:c.3032G>T	XP_016883035.1:p.Ser1011Ile
NM_014727.3:c.6068G>T MANE Select	NP_055542.1:p.Ser2023Ile