Canonical Allele Identifier: CA507308922

Gene: KMT2B

Linked Data

• dbSNP Id: rs1182771390
• gnomAD v2: 19-36223879-T-C
• gnomAD v4: 19-35732978-T-C
• MyVariant Identifiers: chr19:g.36223879T>C (hg19) ; chr19:g.35732978T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732978T>C , CM000681.2:g.35732978T>C	GRCh38
NC_000019.9:g.36223879T>C , CM000681.1:g.36223879T>C	GRCh37
NC_000019.8:g.40915719T>C	NCBI36
NG_052906.1:g.19960T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.735T>C
ENST00000673918.2:c.6363T>C	ENSP00000501283.1:p.Ala2121=
ENST00000674114.2:c.3970T>C	ENSP00000501039.2:n.3970T>C
ENST00000684977.1:c.1647T>C	ENSP00000509384.1:p.Ala549=
ENST00000689544.1:n.1582T>C
ENST00000691421.1:c.1650T>C	ENSP00000508674.1:p.Ala550=
ENST00000691855.1:c.5971T>C
ENST00000692961.1:c.6429T>C	ENSP00000509289.1:p.Ala2143=
ENST00000693677.1:c.705-619T>C	ENSP00000509779.1:n.705-619T>C
ENST00000420124.4:c.6429T>C MANE Select	ENSP00000398837.2:p.Ala2143=
ENST00000673918.1:c.6363T>C	ENSP00000501283.1:p.Ala2121=
ENST00000674114.1:c.3751T>C
ENST00000420124.2:c.6429T>C	ENSP00000398837.1:p.Ala2143=
NM_014727.2:c.6429T>C	NP_055542.1:p.Ala2143=
XM_011527561.1:c.6363T>C	XP_011525863.1:p.Ala2121=
XM_011527562.1:c.6429T>C	XP_011525864.1:p.Ala2143=
XM_011527563.1:c.6153T>C	XP_011525865.1:p.Ala2051=
XM_011527561.2:c.5865T>C	XP_011525863.2:p.Ala1955=
XM_011527562.2:c.6429T>C	XP_011525864.1:p.Ala2143=
XM_017027544.1:c.6429T>C	XP_016883033.1:p.Ala2143=
XM_017027545.1:c.5865T>C	XP_016883034.1:p.Ala1955=
XM_017027546.1:c.3393T>C	XP_016883035.1:p.Ala1131=
NM_014727.3:c.6429T>C MANE Select	NP_055542.1:p.Ala2143=