Canonical Allele Identifier: CA405374957
Community Standard Title: NM_014727.3(KMT2B):c.182C>A (p.Pro61His)
Gene: KMT2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35718200C>A , CM000681.2:g.35718200C>A GRCh38
NC_000019.9:g.36209102C>A , CM000681.1:g.36209102C>A GRCh37
NC_000019.8:g.40900942C>A NCBI36
NG_052906.1:g.5182C>A

Transcript Alleles

HGVS Amino-acid Change
NM_014727.3:c.182C>A MANE Select NP_055542.1:p.Pro61His
ENST00000420124.4:c.182C>A MANE Select ENSP00000398837.2:p.Pro61His
NM_014727.2:c.182C>A NP_055542.1:p.Pro61His
ENST00000420124.2:c.182C>A ENSP00000398837.1:p.Pro61His
ENST00000673918.1:c.182C>A ENSP00000501283.1:p.Pro61His
ENST00000673918.2:c.182C>A ENSP00000501283.1:p.Pro61His
ENST00000687718.1:c.182C>A ENSP00000510535.1:p.Pro61His
ENST00000692961.1:c.182C>A ENSP00000509289.1:p.Pro61His
XM_011527561.1:c.182C>A XP_011525863.1:p.Pro61His
XM_011527561.2:c.-317C>A XP_011525863.2:n.-317C>A
XM_011527562.1:c.182C>A XP_011525864.1:p.Pro61His
XM_011527562.2:c.182C>A XP_011525864.1:p.Pro61His
XM_011527563.1:c.182C>A XP_011525865.1:p.Pro61His
XM_017027544.1:c.182C>A XP_016883033.1:p.Pro61His
XM_017027545.1:c.-310C>A XP_016883034.1:n.-310C>A
XR_935878.1:n.206C>A
XR_935878.2:n.383C>A