Canonical Allele Identifier: CA405418881
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730018T>G , CM000681.2:g.35730018T>G GRCh38
NC_000019.9:g.36220919T>G , CM000681.1:g.36220919T>G GRCh37
NC_000019.8:g.40912759T>G NCBI36
NG_052906.1:g.17000T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4903T>G ENSP00000501283.1:p.Ser1635Ala
ENST00000674114.2:c.2510T>G ENSP00000501039.2:n.2510T>G
ENST00000684977.1:c.187T>G ENSP00000509384.1:p.Ser63Ala
ENST00000685168.1:c.395T>G
ENST00000689544.1:n.122T>G
ENST00000691421.1:c.190T>G ENSP00000508674.1:p.Ser64Ala
ENST00000691855.1:c.4511T>G
ENST00000692961.1:c.4969T>G ENSP00000509289.1:p.Ser1657Ala
ENST00000420124.4:c.4969T>G MANE Select ENSP00000398837.2:p.Ser1657Ala
ENST00000673918.1:c.4903T>G ENSP00000501283.1:p.Ser1635Ala
ENST00000674114.1:c.2291T>G
ENST00000420124.2:c.4969T>G ENSP00000398837.1:p.Ser1657Ala
NM_014727.2:c.4969T>G NP_055542.1:p.Ser1657Ala
XM_011527561.1:c.4903T>G XP_011525863.1:p.Ser1635Ala
XM_011527562.1:c.4969T>G XP_011525864.1:p.Ser1657Ala
XM_011527563.1:c.4693T>G XP_011525865.1:p.Ser1565Ala
XM_011527561.2:c.4405T>G XP_011525863.2:p.Ser1469Ala
XM_011527562.2:c.4969T>G XP_011525864.1:p.Ser1657Ala
XM_017027544.1:c.4969T>G XP_016883033.1:p.Ser1657Ala
XM_017027545.1:c.4405T>G XP_016883034.1:p.Ser1469Ala
XM_017027546.1:c.1933T>G XP_016883035.1:p.Ser645Ala
NM_014727.3:c.4969T>G MANE Select NP_055542.1:p.Ser1657Ala