Canonical Allele Identifier: CA307798022

Gene: KMT2B

Linked Data

• dbSNP Id: rs751116452
• gnomAD v3: 19-35733765-C-G
• gnomAD v4: 19-35733765-C-G
• MyVariant Identifiers: chr19:g.36224666C>G (hg19) ; chr19:g.35733765C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733765C>G , CM000681.2:g.35733765C>G	GRCh38
NC_000019.9:g.36224666C>G , CM000681.1:g.36224666C>G	GRCh37
NC_000019.8:g.40916506C>G	NCBI36
NG_052906.1:g.20747C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000592092.2:n.1522C>G
ENST00000673918.2:c.6986C>G	ENSP00000501283.1:p.Pro2329Arg
ENST00000674114.2:c.4593C>G	ENSP00000501039.2:n.4593C>G
ENST00000684977.1:c.2247C>G	ENSP00000509384.1:n.2247C>G
ENST00000689544.1:n.2293C>G
ENST00000689929.1:c.3C>G
ENST00000691421.1:c.2183C>G	ENSP00000508674.1:p.Pro728Arg
ENST00000691855.1:c.6594C>G
ENST00000692961.1:c.6976C>G	ENSP00000509289.1:p.Pro2326Ala
ENST00000693175.1:c.3C>G
ENST00000693677.1:c.797C>G	ENSP00000509779.1:p.Pro266Arg
ENST00000420124.4:c.7052C>G MANE Select	ENSP00000398837.2:p.Pro2351Arg
ENST00000673918.1:c.6986C>G	ENSP00000501283.1:p.Pro2329Arg
ENST00000674114.1:c.4374C>G
ENST00000420124.2:c.7052C>G	ENSP00000398837.1:p.Pro2351Arg
ENST00000592092.1:n.432C>G
NM_014727.2:c.7052C>G	NP_055542.1:p.Pro2351Arg
XM_011527561.1:c.6986C>G	XP_011525863.1:p.Pro2329Arg
XM_011527562.1:c.7052C>G	XP_011525864.1:p.Pro2351Arg
XM_011527563.1:c.6776C>G	XP_011525865.1:p.Pro2259Arg
XM_011527561.2:c.6488C>G	XP_011525863.2:p.Pro2163Arg
XM_011527562.2:c.7052C>G	XP_011525864.1:p.Pro2351Arg
XM_017027544.1:c.6962C>G	XP_016883033.1:p.Pro2321Arg
XM_017027545.1:c.6488C>G	XP_016883034.1:p.Pro2163Arg
XM_017027546.1:c.4016C>G	XP_016883035.1:p.Pro1339Arg
NM_014727.3:c.7052C>G MANE Select	NP_055542.1:p.Pro2351Arg