Canonical Allele Identifier: CA507307225

Gene: KMT2B

Linked Data

• dbSNP Id: rs1057519284
• gnomAD v4: 19-35728145-C-T
• MyVariant Identifiers: chr19:g.36219046C>T (hg19) ; chr19:g.35728145C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000673918.2:c.4479C>T	ENSP00000501283.1:p.Tyr1493=
ENST00000674114.2:c.2086C>T	ENSP00000501039.2:n.2086C>T
ENST00000690290.1:c.512C>T
ENST00000691855.1:c.4087C>T
ENST00000691968.1:c.1093C>T	ENSP00000508504.1:n.1093C>T
ENST00000692961.1:c.4545C>T	ENSP00000509289.1:p.Tyr1515=
ENST00000420124.4:c.4545C>T MANE Select	ENSP00000398837.2:p.Tyr1515=
ENST00000673918.1:c.4479C>T	ENSP00000501283.1:p.Tyr1493=
ENST00000673946.1:c.48C>T	ENSP00000501076.1:p.Tyr16=
ENST00000674114.1:c.1867C>T
ENST00000420124.2:c.4545C>T	ENSP00000398837.1:p.Tyr1515=
NM_014727.2:c.4545C>T	NP_055542.1:p.Tyr1515=
XM_011527561.1:c.4479C>T	XP_011525863.1:p.Tyr1493=
XM_011527562.1:c.4545C>T	XP_011525864.1:p.Tyr1515=
XM_011527563.1:c.4269C>T	XP_011525865.1:p.Tyr1423=
XR_935878.1:n.4569C>T
XM_011527561.2:c.3981C>T	XP_011525863.2:p.Tyr1327=
XM_011527562.2:c.4545C>T	XP_011525864.1:p.Tyr1515=
XM_017027544.1:c.4545C>T	XP_016883033.1:p.Tyr1515=
XM_017027545.1:c.3981C>T	XP_016883034.1:p.Tyr1327=
XM_017027546.1:c.1509C>T	XP_016883035.1:p.Tyr503=
XR_935878.2:n.4746C>T
NM_014727.3:c.4545C>T MANE Select	NP_055542.1:p.Tyr1515=