Canonical Allele Identifier: CA507072447
Gene: KMT2B HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.36220879C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35729978C>A , CM000681.2:g.35729978C>A GRCh38
NC_000019.9:g.36220879C>A , CM000681.1:g.36220879C>A GRCh37
NC_000019.8:g.40912719C>A NCBI36
NG_052906.1:g.16960C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4863C>A ENSP00000501283.1:p.Leu1621=
ENST00000674114.2:c.2470C>A ENSP00000501039.2:n.2470C>A
ENST00000684977.1:c.147C>A ENSP00000509384.1:p.Leu49=
ENST00000685168.1:c.355C>A
ENST00000689544.1:n.82C>A
ENST00000691421.1:c.150C>A ENSP00000508674.1:p.Leu50=
ENST00000691855.1:c.4471C>A
ENST00000692961.1:c.4929C>A ENSP00000509289.1:p.Leu1643=
ENST00000420124.4:c.4929C>A MANE Select ENSP00000398837.2:p.Leu1643=
ENST00000673918.1:c.4863C>A ENSP00000501283.1:p.Leu1621=
ENST00000674114.1:c.2251C>A
ENST00000420124.2:c.4929C>A ENSP00000398837.1:p.Leu1643=
NM_014727.2:c.4929C>A NP_055542.1:p.Leu1643=
XM_011527561.1:c.4863C>A XP_011525863.1:p.Leu1621=
XM_011527562.1:c.4929C>A XP_011525864.1:p.Leu1643=
XM_011527563.1:c.4653C>A XP_011525865.1:p.Leu1551=
XM_011527561.2:c.4365C>A XP_011525863.2:p.Leu1455=
XM_011527562.2:c.4929C>A XP_011525864.1:p.Leu1643=
XM_017027544.1:c.4929C>A XP_016883033.1:p.Leu1643=
XM_017027545.1:c.4365C>A XP_016883034.1:p.Leu1455=
XM_017027546.1:c.1893C>A XP_016883035.1:p.Leu631=
NM_014727.3:c.4929C>A MANE Select NP_055542.1:p.Leu1643=