Canonical Allele Identifier: CA405419098
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730062C>A , CM000681.2:g.35730062C>A GRCh38
NC_000019.9:g.36220963C>A , CM000681.1:g.36220963C>A GRCh37
NC_000019.8:g.40912803C>A NCBI36
NG_052906.1:g.17044C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4947C>A ENSP00000501283.1:p.Tyr1649Ter
ENST00000674114.2:c.2554C>A ENSP00000501039.2:n.2554C>A
ENST00000684977.1:c.231C>A ENSP00000509384.1:p.Tyr77Ter
ENST00000685168.1:c.439C>A
ENST00000689544.1:n.166C>A
ENST00000691421.1:c.234C>A ENSP00000508674.1:p.Tyr78Ter
ENST00000691855.1:c.4555C>A
ENST00000692961.1:c.5013C>A ENSP00000509289.1:p.Tyr1671Ter
ENST00000420124.4:c.5013C>A MANE Select ENSP00000398837.2:p.Tyr1671Ter
ENST00000673918.1:c.4947C>A ENSP00000501283.1:p.Tyr1649Ter
ENST00000674114.1:c.2335C>A
ENST00000420124.2:c.5013C>A ENSP00000398837.1:p.Tyr1671Ter
NM_014727.2:c.5013C>A NP_055542.1:p.Tyr1671Ter
XM_011527561.1:c.4947C>A XP_011525863.1:p.Tyr1649Ter
XM_011527562.1:c.5013C>A XP_011525864.1:p.Tyr1671Ter
XM_011527563.1:c.4737C>A XP_011525865.1:p.Tyr1579Ter
XM_011527561.2:c.4449C>A XP_011525863.2:p.Tyr1483Ter
XM_011527562.2:c.5013C>A XP_011525864.1:p.Tyr1671Ter
XM_017027544.1:c.5013C>A XP_016883033.1:p.Tyr1671Ter
XM_017027545.1:c.4449C>A XP_016883034.1:p.Tyr1483Ter
XM_017027546.1:c.1977C>A XP_016883035.1:p.Tyr659Ter
NM_014727.3:c.5013C>A MANE Select NP_055542.1:p.Tyr1671Ter