Canonical Allele Identifier: CA16043952

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 374876
• ClinVar RCV Id: RCV000415597 ; RCV002251741
• dbSNP Id: rs1057519284
• MyVariant Identifiers: chr19:g.36219046C>A (hg19) ; chr19:g.35728145C>A (hg38)
• PubMed: PMID:27992417

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35728145C>A , CM000681.2:g.35728145C>A	GRCh38
NC_000019.9:g.36219046C>A , CM000681.1:g.36219046C>A	GRCh37
NC_000019.8:g.40910886C>A	NCBI36
NG_052906.1:g.15127C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000673918.2:c.4479C>A	ENSP00000501283.1:p.Tyr1493Ter
ENST00000674114.2:c.2086C>A	ENSP00000501039.2:n.2086C>A
ENST00000690290.1:c.512C>A
ENST00000691855.1:c.4087C>A
ENST00000691968.1:c.1093C>A	ENSP00000508504.1:n.1093C>A
ENST00000692961.1:c.4545C>A	ENSP00000509289.1:p.Tyr1515Ter
ENST00000420124.4:c.4545C>A MANE Select	ENSP00000398837.2:p.Tyr1515Ter
ENST00000673918.1:c.4479C>A	ENSP00000501283.1:p.Tyr1493Ter
ENST00000673946.1:c.48C>A	ENSP00000501076.1:p.Tyr16Ter
ENST00000674114.1:c.1867C>A
ENST00000420124.2:c.4545C>A	ENSP00000398837.1:p.Tyr1515Ter
NM_014727.2:c.4545C>A	NP_055542.1:p.Tyr1515Ter
XM_011527561.1:c.4479C>A	XP_011525863.1:p.Tyr1493Ter
XM_011527562.1:c.4545C>A	XP_011525864.1:p.Tyr1515Ter
XM_011527563.1:c.4269C>A	XP_011525865.1:p.Tyr1423Ter
XR_935878.1:n.4569C>A
XM_011527561.2:c.3981C>A	XP_011525863.2:p.Tyr1327Ter
XM_011527562.2:c.4545C>A	XP_011525864.1:p.Tyr1515Ter
XM_017027544.1:c.4545C>A	XP_016883033.1:p.Tyr1515Ter
XM_017027545.1:c.3981C>A	XP_016883034.1:p.Tyr1327Ter
XM_017027546.1:c.1509C>A	XP_016883035.1:p.Tyr503Ter
XR_935878.2:n.4746C>A
NM_014727.3:c.4545C>A MANE Select	NP_055542.1:p.Tyr1515Ter