Canonical Allele Identifier: CA405392660
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35720987T>G , CM000681.2:g.35720987T>G GRCh38
NC_000019.9:g.36211889T>G , CM000681.1:g.36211889T>G GRCh37
NC_000019.8:g.40903729T>G NCBI36
NG_052906.1:g.7969T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000673918.2:c.1574T>G ENSP00000501283.1:p.Met525Arg
ENST00000687718.1:c.*1141T>G ENSP00000510535.1:n.*1141T>G
ENST00000689139.1:c.1138T>G
ENST00000691855.1:c.1138T>G
ENST00000692961.1:c.1640T>G ENSP00000509289.1:p.Met547Arg
ENST00000420124.4:c.1640T>G MANE Select ENSP00000398837.2:p.Met547Arg
ENST00000673918.1:c.1574T>G ENSP00000501283.1:p.Met525Arg
ENST00000420124.2:c.1640T>G ENSP00000398837.1:p.Met547Arg
ENST00000606995.2:n.39+47T>G
NM_014727.2:c.1640T>G NP_055542.1:p.Met547Arg
XM_011527561.1:c.1574T>G XP_011525863.1:p.Met525Arg
XM_011527562.1:c.1640T>G XP_011525864.1:p.Met547Arg
XM_011527563.1:c.1640T>G XP_011525865.1:p.Met547Arg
XR_935878.1:n.1664T>G
XM_011527561.2:c.1076T>G XP_011525863.2:p.Met359Arg
XM_011527562.2:c.1640T>G XP_011525864.1:p.Met547Arg
XM_017027544.1:c.1640T>G XP_016883033.1:p.Met547Arg
XM_017027545.1:c.1076T>G XP_016883034.1:p.Met359Arg
XR_935878.2:n.1841T>G
NM_014727.3:c.1640T>G MANE Select NP_055542.1:p.Met547Arg