Canonical Allele Identifier: CA405428360

Gene: KMT2B

Linked Data

• dbSNP Id: rs372860000
• gnomAD v3: 19-35732961-C-T
• gnomAD v4: 19-35732961-C-T
• MyVariant Identifiers: chr19:g.36223862C>T (hg19) ; chr19:g.35732961C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732961C>T , CM000681.2:g.35732961C>T	GRCh38
NC_000019.9:g.36223862C>T , CM000681.1:g.36223862C>T	GRCh37
NC_000019.8:g.40915702C>T	NCBI36
NG_052906.1:g.19943C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000592092.2:n.718C>T
ENST00000673918.2:c.6346C>T	ENSP00000501283.1:p.Pro2116Ser
ENST00000674114.2:c.3953C>T	ENSP00000501039.2:n.3953C>T
ENST00000684977.1:c.1630C>T	ENSP00000509384.1:p.Pro544Ser
ENST00000689544.1:n.1565C>T
ENST00000691421.1:c.1633C>T	ENSP00000508674.1:p.Pro545Ser
ENST00000691855.1:c.5954C>T
ENST00000692961.1:c.6412C>T	ENSP00000509289.1:p.Pro2138Ser
ENST00000693677.1:c.704+632C>T	ENSP00000509779.1:n.704+632C>T
ENST00000420124.4:c.6412C>T MANE Select	ENSP00000398837.2:p.Pro2138Ser
ENST00000673918.1:c.6346C>T	ENSP00000501283.1:p.Pro2116Ser
ENST00000674114.1:c.3734C>T
ENST00000420124.2:c.6412C>T	ENSP00000398837.1:p.Pro2138Ser
NM_014727.2:c.6412C>T	NP_055542.1:p.Pro2138Ser
XM_011527561.1:c.6346C>T	XP_011525863.1:p.Pro2116Ser
XM_011527562.1:c.6412C>T	XP_011525864.1:p.Pro2138Ser
XM_011527563.1:c.6136C>T	XP_011525865.1:p.Pro2046Ser
XM_011527561.2:c.5848C>T	XP_011525863.2:p.Pro1950Ser
XM_011527562.2:c.6412C>T	XP_011525864.1:p.Pro2138Ser
XM_017027544.1:c.6412C>T	XP_016883033.1:p.Pro2138Ser
XM_017027545.1:c.5848C>T	XP_016883034.1:p.Pro1950Ser
XM_017027546.1:c.3376C>T	XP_016883035.1:p.Pro1126Ser
NM_014727.3:c.6412C>T MANE Select	NP_055542.1:p.Pro2138Ser