Canonical Allele Identifier: CA307792946
Gene: KMT2B HGNC NCBI

Linked Data

dbSNP Id: rs941032675

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730020C>G , CM000681.2:g.35730020C>G GRCh38
NC_000019.9:g.36220921C>G , CM000681.1:g.36220921C>G GRCh37
NC_000019.8:g.40912761C>G NCBI36
NG_052906.1:g.17002C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4905C>G ENSP00000501283.1:p.Ser1635=
ENST00000674114.2:c.2512C>G ENSP00000501039.2:n.2512C>G
ENST00000684977.1:c.189C>G ENSP00000509384.1:p.Ser63=
ENST00000685168.1:c.397C>G
ENST00000689544.1:n.124C>G
ENST00000691421.1:c.192C>G ENSP00000508674.1:p.Ser64=
ENST00000691855.1:c.4513C>G
ENST00000692961.1:c.4971C>G ENSP00000509289.1:p.Ser1657=
ENST00000420124.4:c.4971C>G MANE Select ENSP00000398837.2:p.Ser1657=
ENST00000673918.1:c.4905C>G ENSP00000501283.1:p.Ser1635=
ENST00000674114.1:c.2293C>G
ENST00000420124.2:c.4971C>G ENSP00000398837.1:p.Ser1657=
NM_014727.2:c.4971C>G NP_055542.1:p.Ser1657=
XM_011527561.1:c.4905C>G XP_011525863.1:p.Ser1635=
XM_011527562.1:c.4971C>G XP_011525864.1:p.Ser1657=
XM_011527563.1:c.4695C>G XP_011525865.1:p.Ser1565=
XM_011527561.2:c.4407C>G XP_011525863.2:p.Ser1469=
XM_011527562.2:c.4971C>G XP_011525864.1:p.Ser1657=
XM_017027544.1:c.4971C>G XP_016883033.1:p.Ser1657=
XM_017027545.1:c.4407C>G XP_016883034.1:p.Ser1469=
XM_017027546.1:c.1935C>G XP_016883035.1:p.Ser645=
NM_014727.3:c.4971C>G MANE Select NP_055542.1:p.Ser1657=