Canonical Allele Identifier: CA9385684

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 1298759
• ClinVar RCV Id: RCV001727089
• dbSNP Id: rs772818778
• ExAC: 19:36223863 C / T
• gnomAD v2: 19-36223863-C-T
• gnomAD v3: 19-35732962-C-T
• gnomAD v4: 19-35732962-C-T
• MyVariant Identifiers: chr19:g.36223863C>T (hg19) ; chr19:g.35732962C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732962C>T , CM000681.2:g.35732962C>T	GRCh38
NC_000019.9:g.36223863C>T , CM000681.1:g.36223863C>T	GRCh37
NC_000019.8:g.40915703C>T	NCBI36
NG_052906.1:g.19944C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000592092.2:n.719C>T
ENST00000673918.2:c.6347C>T	ENSP00000501283.1:p.Pro2116Leu
ENST00000674114.2:c.3954C>T	ENSP00000501039.2:n.3954C>T
ENST00000684977.1:c.1631C>T	ENSP00000509384.1:p.Pro544Leu
ENST00000689544.1:n.1566C>T
ENST00000691421.1:c.1634C>T	ENSP00000508674.1:p.Pro545Leu
ENST00000691855.1:c.5955C>T
ENST00000692961.1:c.6413C>T	ENSP00000509289.1:p.Pro2138Leu
ENST00000693677.1:c.704+633C>T	ENSP00000509779.1:n.704+633C>T
ENST00000420124.4:c.6413C>T MANE Select	ENSP00000398837.2:p.Pro2138Leu
ENST00000673918.1:c.6347C>T	ENSP00000501283.1:p.Pro2116Leu
ENST00000674114.1:c.3735C>T
ENST00000420124.2:c.6413C>T	ENSP00000398837.1:p.Pro2138Leu
NM_014727.2:c.6413C>T	NP_055542.1:p.Pro2138Leu
XM_011527561.1:c.6347C>T	XP_011525863.1:p.Pro2116Leu
XM_011527562.1:c.6413C>T	XP_011525864.1:p.Pro2138Leu
XM_011527563.1:c.6137C>T	XP_011525865.1:p.Pro2046Leu
XM_011527561.2:c.5849C>T	XP_011525863.2:p.Pro1950Leu
XM_011527562.2:c.6413C>T	XP_011525864.1:p.Pro2138Leu
XM_017027544.1:c.6413C>T	XP_016883033.1:p.Pro2138Leu
XM_017027545.1:c.5849C>T	XP_016883034.1:p.Pro1950Leu
XM_017027546.1:c.3377C>T	XP_016883035.1:p.Pro1126Leu
NM_014727.3:c.6413C>T MANE Select	NP_055542.1:p.Pro2138Leu