Canonical Allele Identifier: CA405424493

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 871238
• ClinVar RCV Id: RCV001091076
• dbSNP Id: rs991657581
• gnomAD v2: 19-36223358-C-A
• gnomAD v3: 19-35732457-C-A
• gnomAD v4: 19-35732457-C-A
• MyVariant Identifiers: chr19:g.36223358C>A (hg19) ; chr19:g.35732457C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732457C>A , CM000681.2:g.35732457C>A	GRCh38
NC_000019.9:g.36223358C>A , CM000681.1:g.36223358C>A	GRCh37
NC_000019.8:g.40915198C>A	NCBI36
NG_052906.1:g.19439C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.214C>A
ENST00000673918.2:c.5842C>A	ENSP00000501283.1:p.Pro1948Thr
ENST00000674114.2:c.3449C>A	ENSP00000501039.2:n.3449C>A
ENST00000684977.1:c.1126C>A	ENSP00000509384.1:p.Pro376Thr
ENST00000689544.1:n.1061C>A
ENST00000691421.1:c.1129C>A	ENSP00000508674.1:p.Pro377Thr
ENST00000691855.1:c.5450C>A
ENST00000692961.1:c.5908C>A	ENSP00000509289.1:p.Pro1970Thr
ENST00000693677.1:c.704+128C>A	ENSP00000509779.1:n.704+128C>A
ENST00000420124.4:c.5908C>A MANE Select	ENSP00000398837.2:p.Pro1970Thr
ENST00000673918.1:c.5842C>A	ENSP00000501283.1:p.Pro1948Thr
ENST00000674114.1:c.3230C>A
ENST00000420124.2:c.5908C>A	ENSP00000398837.1:p.Pro1970Thr
NM_014727.2:c.5908C>A	NP_055542.1:p.Pro1970Thr
XM_011527561.1:c.5842C>A	XP_011525863.1:p.Pro1948Thr
XM_011527562.1:c.5908C>A	XP_011525864.1:p.Pro1970Thr
XM_011527563.1:c.5632C>A	XP_011525865.1:p.Pro1878Thr
XM_011527561.2:c.5344C>A	XP_011525863.2:p.Pro1782Thr
XM_011527562.2:c.5908C>A	XP_011525864.1:p.Pro1970Thr
XM_017027544.1:c.5908C>A	XP_016883033.1:p.Pro1970Thr
XM_017027545.1:c.5344C>A	XP_016883034.1:p.Pro1782Thr
XM_017027546.1:c.2872C>A	XP_016883035.1:p.Pro958Thr
NM_014727.3:c.5908C>A MANE Select	NP_055542.1:p.Pro1970Thr