Canonical Allele Identifier: CA405426046

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 1604203
• ClinVar RCV Id: RCV002149457
• dbSNP Id: rs2146468800
• MyVariant Identifiers: chr19:g.36223657C>G (hg19) ; chr19:g.35732756C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732756C>G , CM000681.2:g.35732756C>G	GRCh38
NC_000019.9:g.36223657C>G , CM000681.1:g.36223657C>G	GRCh37
NC_000019.8:g.40915497C>G	NCBI36
NG_052906.1:g.19738C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.513C>G
ENST00000673918.2:c.6141C>G	ENSP00000501283.1:p.Asp2047Glu
ENST00000674114.2:c.3748C>G	ENSP00000501039.2:n.3748C>G
ENST00000684977.1:c.1425C>G	ENSP00000509384.1:p.Asp475Glu
ENST00000689544.1:n.1360C>G
ENST00000691421.1:c.1428C>G	ENSP00000508674.1:p.Asp476Glu
ENST00000691855.1:c.5749C>G
ENST00000692961.1:c.6207C>G	ENSP00000509289.1:p.Asp2069Glu
ENST00000693677.1:c.704+427C>G	ENSP00000509779.1:n.704+427C>G
ENST00000420124.4:c.6207C>G MANE Select	ENSP00000398837.2:p.Asp2069Glu
ENST00000673918.1:c.6141C>G	ENSP00000501283.1:p.Asp2047Glu
ENST00000674114.1:c.3529C>G
ENST00000420124.2:c.6207C>G	ENSP00000398837.1:p.Asp2069Glu
NM_014727.2:c.6207C>G	NP_055542.1:p.Asp2069Glu
XM_011527561.1:c.6141C>G	XP_011525863.1:p.Asp2047Glu
XM_011527562.1:c.6207C>G	XP_011525864.1:p.Asp2069Glu
XM_011527563.1:c.5931C>G	XP_011525865.1:p.Asp1977Glu
XM_011527561.2:c.5643C>G	XP_011525863.2:p.Asp1881Glu
XM_011527562.2:c.6207C>G	XP_011525864.1:p.Asp2069Glu
XM_017027544.1:c.6207C>G	XP_016883033.1:p.Asp2069Glu
XM_017027545.1:c.5643C>G	XP_016883034.1:p.Asp1881Glu
XM_017027546.1:c.3171C>G	XP_016883035.1:p.Asp1057Glu
NM_014727.3:c.6207C>G MANE Select	NP_055542.1:p.Asp2069Glu