Canonical Allele Identifier: CA2736056950
Gene: KMT2B HGNC NCBI

Linked Data

dbSNP Id: rs2146461925

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35730152T>C , CM000681.2:g.35730152T>C GRCh38
NC_000019.9:g.36221053T>C , CM000681.1:g.36221053T>C GRCh37
NC_000019.8:g.40912893T>C NCBI36
NG_052906.1:g.17134T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673918.2:c.5010+27T>C ENSP00000501283.1:n.5010+27T>C
ENST00000674114.2:c.2617+27T>C ENSP00000501039.2:n.2617+27T>C
ENST00000684977.1:c.294+27T>C ENSP00000509384.1:n.294+27T>C
ENST00000685168.1:c.502+27T>C
ENST00000689544.1:n.229+27T>C
ENST00000691421.1:c.297+27T>C ENSP00000508674.1:n.297+27T>C
ENST00000691855.1:c.4618+27T>C
ENST00000692961.1:c.5076+27T>C ENSP00000509289.1:n.5076+27T>C
ENST00000420124.4:c.5076+27T>C MANE Select ENSP00000398837.2:n.5076+27T>C
ENST00000673918.1:c.5010+27T>C ENSP00000501283.1:n.5010+27T>C
ENST00000674114.1:c.2398+27T>C
ENST00000420124.2:c.5076+27T>C ENSP00000398837.1:n.5076+27T>C
NM_014727.2:c.5076+27T>C NP_055542.1:n.5076+27T>C
XM_011527561.1:c.5010+27T>C XP_011525863.1:n.5010+27T>C
XM_011527562.1:c.5076+27T>C XP_011525864.1:n.5076+27T>C
XM_011527563.1:c.4800+27T>C XP_011525865.1:n.4800+27T>C
XM_011527561.2:c.4512+27T>C XP_011525863.2:n.4512+27T>C
XM_011527562.2:c.5076+27T>C XP_011525864.1:n.5076+27T>C
XM_017027544.1:c.5076+27T>C XP_016883033.1:n.5076+27T>C
XM_017027545.1:c.4512+27T>C XP_016883034.1:n.4512+27T>C
XM_017027546.1:c.2040+27T>C XP_016883035.1:n.2040+27T>C
NM_014727.3:c.5076+27T>C MANE Select NP_055542.1:n.5076+27T>C