Canonical Allele Identifier: CA405419088
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730060T>G , CM000681.2:g.35730060T>G GRCh38
NC_000019.9:g.36220961T>G , CM000681.1:g.36220961T>G GRCh37
NC_000019.8:g.40912801T>G NCBI36
NG_052906.1:g.17042T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4945T>G ENSP00000501283.1:p.Tyr1649Asp
ENST00000674114.2:c.2552T>G ENSP00000501039.2:n.2552T>G
ENST00000684977.1:c.229T>G ENSP00000509384.1:p.Tyr77Asp
ENST00000685168.1:c.437T>G
ENST00000689544.1:n.164T>G
ENST00000691421.1:c.232T>G ENSP00000508674.1:p.Tyr78Asp
ENST00000691855.1:c.4553T>G
ENST00000692961.1:c.5011T>G ENSP00000509289.1:p.Tyr1671Asp
ENST00000420124.4:c.5011T>G MANE Select ENSP00000398837.2:p.Tyr1671Asp
ENST00000673918.1:c.4945T>G ENSP00000501283.1:p.Tyr1649Asp
ENST00000674114.1:c.2333T>G
ENST00000420124.2:c.5011T>G ENSP00000398837.1:p.Tyr1671Asp
NM_014727.2:c.5011T>G NP_055542.1:p.Tyr1671Asp
XM_011527561.1:c.4945T>G XP_011525863.1:p.Tyr1649Asp
XM_011527562.1:c.5011T>G XP_011525864.1:p.Tyr1671Asp
XM_011527563.1:c.4735T>G XP_011525865.1:p.Tyr1579Asp
XM_011527561.2:c.4447T>G XP_011525863.2:p.Tyr1483Asp
XM_011527562.2:c.5011T>G XP_011525864.1:p.Tyr1671Asp
XM_017027544.1:c.5011T>G XP_016883033.1:p.Tyr1671Asp
XM_017027545.1:c.4447T>G XP_016883034.1:p.Tyr1483Asp
XM_017027546.1:c.1975T>G XP_016883035.1:p.Tyr659Asp
NM_014727.3:c.5011T>G MANE Select NP_055542.1:p.Tyr1671Asp