Canonical Allele Identifier: CA9385570

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 2073833
• ClinVar RCV Id: RCV002944163 ; RCV004065028
• dbSNP Id: rs577422165
• ExAC: 19:36223388 A / G
• gnomAD v2: 19-36223388-A-G
• gnomAD v3: 19-35732487-A-G
• gnomAD v4: 19-35732487-A-G
• MyVariant Identifiers: chr19:g.36223388A>G (hg19) ; chr19:g.35732487A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732487A>G , CM000681.2:g.35732487A>G	GRCh38
NC_000019.9:g.36223388A>G , CM000681.1:g.36223388A>G	GRCh37
NC_000019.8:g.40915228A>G	NCBI36
NG_052906.1:g.19469A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.244A>G
ENST00000673918.2:c.5872A>G	ENSP00000501283.1:p.Met1958Val
ENST00000674114.2:c.3479A>G	ENSP00000501039.2:n.3479A>G
ENST00000684977.1:c.1156A>G	ENSP00000509384.1:p.Met386Val
ENST00000689544.1:n.1091A>G
ENST00000691421.1:c.1159A>G	ENSP00000508674.1:p.Met387Val
ENST00000691855.1:c.5480A>G
ENST00000692961.1:c.5938A>G	ENSP00000509289.1:p.Met1980Val
ENST00000693677.1:c.704+158A>G	ENSP00000509779.1:n.704+158A>G
ENST00000420124.4:c.5938A>G MANE Select	ENSP00000398837.2:p.Met1980Val
ENST00000673918.1:c.5872A>G	ENSP00000501283.1:p.Met1958Val
ENST00000674114.1:c.3260A>G
ENST00000420124.2:c.5938A>G	ENSP00000398837.1:p.Met1980Val
NM_014727.2:c.5938A>G	NP_055542.1:p.Met1980Val
XM_011527561.1:c.5872A>G	XP_011525863.1:p.Met1958Val
XM_011527562.1:c.5938A>G	XP_011525864.1:p.Met1980Val
XM_011527563.1:c.5662A>G	XP_011525865.1:p.Met1888Val
XM_011527561.2:c.5374A>G	XP_011525863.2:p.Met1792Val
XM_011527562.2:c.5938A>G	XP_011525864.1:p.Met1980Val
XM_017027544.1:c.5938A>G	XP_016883033.1:p.Met1980Val
XM_017027545.1:c.5374A>G	XP_016883034.1:p.Met1792Val
XM_017027546.1:c.2902A>G	XP_016883035.1:p.Met968Val
NM_014727.3:c.5938A>G MANE Select	NP_055542.1:p.Met1980Val