Canonical Allele Identifier: CA405427819

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 932360
• ClinVar RCV Id: RCV001200124
• dbSNP Id: rs1969766048
• MyVariant Identifiers: chr19:g.36223779C>T (hg19) ; chr19:g.35732878C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732878C>T , CM000681.2:g.35732878C>T	GRCh38
NC_000019.9:g.36223779C>T , CM000681.1:g.36223779C>T	GRCh37
NC_000019.8:g.40915619C>T	NCBI36
NG_052906.1:g.19860C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.635C>T
ENST00000673918.2:c.6263C>T	ENSP00000501283.1:p.Pro2088Leu
ENST00000674114.2:c.3870C>T	ENSP00000501039.2:n.3870C>T
ENST00000684977.1:c.1547C>T	ENSP00000509384.1:p.Pro516Leu
ENST00000689544.1:n.1482C>T
ENST00000691421.1:c.1550C>T	ENSP00000508674.1:p.Pro517Leu
ENST00000691855.1:c.5871C>T
ENST00000692961.1:c.6329C>T	ENSP00000509289.1:p.Pro2110Leu
ENST00000693677.1:c.704+549C>T	ENSP00000509779.1:n.704+549C>T
ENST00000420124.4:c.6329C>T MANE Select	ENSP00000398837.2:p.Pro2110Leu
ENST00000673918.1:c.6263C>T	ENSP00000501283.1:p.Pro2088Leu
ENST00000674114.1:c.3651C>T
ENST00000420124.2:c.6329C>T	ENSP00000398837.1:p.Pro2110Leu
NM_014727.2:c.6329C>T	NP_055542.1:p.Pro2110Leu
XM_011527561.1:c.6263C>T	XP_011525863.1:p.Pro2088Leu
XM_011527562.1:c.6329C>T	XP_011525864.1:p.Pro2110Leu
XM_011527563.1:c.6053C>T	XP_011525865.1:p.Pro2018Leu
XM_011527561.2:c.5765C>T	XP_011525863.2:p.Pro1922Leu
XM_011527562.2:c.6329C>T	XP_011525864.1:p.Pro2110Leu
XM_017027544.1:c.6329C>T	XP_016883033.1:p.Pro2110Leu
XM_017027545.1:c.5765C>T	XP_016883034.1:p.Pro1922Leu
XM_017027546.1:c.3293C>T	XP_016883035.1:p.Pro1098Leu
NM_014727.3:c.6329C>T MANE Select	NP_055542.1:p.Pro2110Leu