Canonical Allele Identifier: CA405418700
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35729980G>C , CM000681.2:g.35729980G>C GRCh38
NC_000019.9:g.36220881G>C , CM000681.1:g.36220881G>C GRCh37
NC_000019.8:g.40912721G>C NCBI36
NG_052906.1:g.16962G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4865G>C ENSP00000501283.1:p.Cys1622Ser
ENST00000674114.2:c.2472G>C ENSP00000501039.2:n.2472G>C
ENST00000684977.1:c.149G>C ENSP00000509384.1:p.Cys50Ser
ENST00000685168.1:c.357G>C
ENST00000689544.1:n.84G>C
ENST00000691421.1:c.152G>C ENSP00000508674.1:p.Cys51Ser
ENST00000691855.1:c.4473G>C
ENST00000692961.1:c.4931G>C ENSP00000509289.1:p.Cys1644Ser
ENST00000420124.4:c.4931G>C MANE Select ENSP00000398837.2:p.Cys1644Ser
ENST00000673918.1:c.4865G>C ENSP00000501283.1:p.Cys1622Ser
ENST00000674114.1:c.2253G>C
ENST00000420124.2:c.4931G>C ENSP00000398837.1:p.Cys1644Ser
NM_014727.2:c.4931G>C NP_055542.1:p.Cys1644Ser
XM_011527561.1:c.4865G>C XP_011525863.1:p.Cys1622Ser
XM_011527562.1:c.4931G>C XP_011525864.1:p.Cys1644Ser
XM_011527563.1:c.4655G>C XP_011525865.1:p.Cys1552Ser
XM_011527561.2:c.4367G>C XP_011525863.2:p.Cys1456Ser
XM_011527562.2:c.4931G>C XP_011525864.1:p.Cys1644Ser
XM_017027544.1:c.4931G>C XP_016883033.1:p.Cys1644Ser
XM_017027545.1:c.4367G>C XP_016883034.1:p.Cys1456Ser
XM_017027546.1:c.1895G>C XP_016883035.1:p.Cys632Ser
NM_014727.3:c.4931G>C MANE Select NP_055542.1:p.Cys1644Ser