Canonical Allele Identifier: CA507072469
Gene: KMT2B HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.36220885G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35729984G>C , CM000681.2:g.35729984G>C GRCh38
NC_000019.9:g.36220885G>C , CM000681.1:g.36220885G>C GRCh37
NC_000019.8:g.40912725G>C NCBI36
NG_052906.1:g.16966G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.4869G>C ENSP00000501283.1:p.Leu1623=
ENST00000674114.2:c.2476G>C ENSP00000501039.2:n.2476G>C
ENST00000684977.1:c.153G>C ENSP00000509384.1:p.Leu51=
ENST00000685168.1:c.361G>C
ENST00000689544.1:n.88G>C
ENST00000691421.1:c.156G>C ENSP00000508674.1:p.Leu52=
ENST00000691855.1:c.4477G>C
ENST00000692961.1:c.4935G>C ENSP00000509289.1:p.Leu1645=
ENST00000420124.4:c.4935G>C MANE Select ENSP00000398837.2:p.Leu1645=
ENST00000673918.1:c.4869G>C ENSP00000501283.1:p.Leu1623=
ENST00000674114.1:c.2257G>C
ENST00000420124.2:c.4935G>C ENSP00000398837.1:p.Leu1645=
NM_014727.2:c.4935G>C NP_055542.1:p.Leu1645=
XM_011527561.1:c.4869G>C XP_011525863.1:p.Leu1623=
XM_011527562.1:c.4935G>C XP_011525864.1:p.Leu1645=
XM_011527563.1:c.4659G>C XP_011525865.1:p.Leu1553=
XM_011527561.2:c.4371G>C XP_011525863.2:p.Leu1457=
XM_011527562.2:c.4935G>C XP_011525864.1:p.Leu1645=
XM_017027544.1:c.4935G>C XP_016883033.1:p.Leu1645=
XM_017027545.1:c.4371G>C XP_016883034.1:p.Leu1457=
XM_017027546.1:c.1899G>C XP_016883035.1:p.Leu633=
NM_014727.3:c.4935G>C MANE Select NP_055542.1:p.Leu1645=