Canonical Allele Identifier: CA507306448
Gene: KMT2B HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.36211893T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35720991T>C , CM000681.2:g.35720991T>C GRCh38
NC_000019.9:g.36211893T>C , CM000681.1:g.36211893T>C GRCh37
NC_000019.8:g.40903733T>C NCBI36
NG_052906.1:g.7973T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000673918.2:c.1578T>C ENSP00000501283.1:p.Asp526=
ENST00000687718.1:c.*1145T>C ENSP00000510535.1:n.*1145T>C
ENST00000689139.1:c.1142T>C
ENST00000691855.1:c.1142T>C
ENST00000692961.1:c.1644T>C ENSP00000509289.1:p.Asp548=
ENST00000420124.4:c.1644T>C MANE Select ENSP00000398837.2:p.Asp548=
ENST00000673918.1:c.1578T>C ENSP00000501283.1:p.Asp526=
ENST00000420124.2:c.1644T>C ENSP00000398837.1:p.Asp548=
ENST00000606995.2:n.39+51T>C
NM_014727.2:c.1644T>C NP_055542.1:p.Asp548=
XM_011527561.1:c.1578T>C XP_011525863.1:p.Asp526=
XM_011527562.1:c.1644T>C XP_011525864.1:p.Asp548=
XM_011527563.1:c.1644T>C XP_011525865.1:p.Asp548=
XR_935878.1:n.1668T>C
XM_011527561.2:c.1080T>C XP_011525863.2:p.Asp360=
XM_011527562.2:c.1644T>C XP_011525864.1:p.Asp548=
XM_017027544.1:c.1644T>C XP_016883033.1:p.Asp548=
XM_017027545.1:c.1080T>C XP_016883034.1:p.Asp360=
XR_935878.2:n.1845T>C
NM_014727.3:c.1644T>C MANE Select NP_055542.1:p.Asp548=