Canonical Allele Identifier: CA507308845

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 1950670
• ClinVar RCV Id: RCV002681407
• dbSNP Id: rs747704539
• gnomAD v2: 19-36223861-C-T
• gnomAD v4: 19-35732960-C-T
• MyVariant Identifiers: chr19:g.36223861C>T (hg19) ; chr19:g.35732960C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732960C>T , CM000681.2:g.35732960C>T	GRCh38
NC_000019.9:g.36223861C>T , CM000681.1:g.36223861C>T	GRCh37
NC_000019.8:g.40915701C>T	NCBI36
NG_052906.1:g.19942C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000592092.2:n.717C>T
ENST00000673918.2:c.6345C>T	ENSP00000501283.1:p.Pro2115=
ENST00000674114.2:c.3952C>T	ENSP00000501039.2:n.3952C>T
ENST00000684977.1:c.1629C>T	ENSP00000509384.1:p.Pro543=
ENST00000689544.1:n.1564C>T
ENST00000691421.1:c.1632C>T	ENSP00000508674.1:p.Pro544=
ENST00000691855.1:c.5953C>T
ENST00000692961.1:c.6411C>T	ENSP00000509289.1:p.Pro2137=
ENST00000693677.1:c.704+631C>T	ENSP00000509779.1:n.704+631C>T
ENST00000420124.4:c.6411C>T MANE Select	ENSP00000398837.2:p.Pro2137=
ENST00000673918.1:c.6345C>T	ENSP00000501283.1:p.Pro2115=
ENST00000674114.1:c.3733C>T
ENST00000420124.2:c.6411C>T	ENSP00000398837.1:p.Pro2137=
NM_014727.2:c.6411C>T	NP_055542.1:p.Pro2137=
XM_011527561.1:c.6345C>T	XP_011525863.1:p.Pro2115=
XM_011527562.1:c.6411C>T	XP_011525864.1:p.Pro2137=
XM_011527563.1:c.6135C>T	XP_011525865.1:p.Pro2045=
XM_011527561.2:c.5847C>T	XP_011525863.2:p.Pro1949=
XM_011527562.2:c.6411C>T	XP_011525864.1:p.Pro2137=
XM_017027544.1:c.6411C>T	XP_016883033.1:p.Pro2137=
XM_017027545.1:c.5847C>T	XP_016883034.1:p.Pro1949=
XM_017027546.1:c.3375C>T	XP_016883035.1:p.Pro1125=
NM_014727.3:c.6411C>T MANE Select	NP_055542.1:p.Pro2137=