Canonical Allele Identifier: CA405418789
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730000G>T , CM000681.2:g.35730000G>T GRCh38
NC_000019.9:g.36220901G>T , CM000681.1:g.36220901G>T GRCh37
NC_000019.8:g.40912741G>T NCBI36
NG_052906.1:g.16982G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4885G>T ENSP00000501283.1:p.Val1629Leu
ENST00000674114.2:c.2492G>T ENSP00000501039.2:n.2492G>T
ENST00000684977.1:c.169G>T ENSP00000509384.1:p.Val57Leu
ENST00000685168.1:c.377G>T
ENST00000689544.1:n.104G>T
ENST00000691421.1:c.172G>T ENSP00000508674.1:p.Val58Leu
ENST00000691855.1:c.4493G>T
ENST00000692961.1:c.4951G>T ENSP00000509289.1:p.Val1651Leu
ENST00000420124.4:c.4951G>T MANE Select ENSP00000398837.2:p.Val1651Leu
ENST00000673918.1:c.4885G>T ENSP00000501283.1:p.Val1629Leu
ENST00000674114.1:c.2273G>T
ENST00000420124.2:c.4951G>T ENSP00000398837.1:p.Val1651Leu
NM_014727.2:c.4951G>T NP_055542.1:p.Val1651Leu
XM_011527561.1:c.4885G>T XP_011525863.1:p.Val1629Leu
XM_011527562.1:c.4951G>T XP_011525864.1:p.Val1651Leu
XM_011527563.1:c.4675G>T XP_011525865.1:p.Val1559Leu
XM_011527561.2:c.4387G>T XP_011525863.2:p.Val1463Leu
XM_011527562.2:c.4951G>T XP_011525864.1:p.Val1651Leu
XM_017027544.1:c.4951G>T XP_016883033.1:p.Val1651Leu
XM_017027545.1:c.4387G>T XP_016883034.1:p.Val1463Leu
XM_017027546.1:c.1915G>T XP_016883035.1:p.Val639Leu
NM_014727.3:c.4951G>T MANE Select NP_055542.1:p.Val1651Leu