Canonical Allele Identifier: CA507308348

Gene: KMT2B

Linked Data

• gnomAD v4: 19-35732621-C-G
• MyVariant Identifiers: chr19:g.36223522C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732621C>G , CM000681.2:g.35732621C>G	GRCh38
NC_000019.9:g.36223522C>G , CM000681.1:g.36223522C>G	GRCh37
NC_000019.8:g.40915362C>G	NCBI36
NG_052906.1:g.19603C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.378C>G
ENST00000673918.2:c.6006C>G	ENSP00000501283.1:p.Ser2002=
ENST00000674114.2:c.3613C>G	ENSP00000501039.2:n.3613C>G
ENST00000684977.1:c.1290C>G	ENSP00000509384.1:p.Ser430=
ENST00000689544.1:n.1225C>G
ENST00000691421.1:c.1293C>G	ENSP00000508674.1:p.Ser431=
ENST00000691855.1:c.5614C>G
ENST00000692961.1:c.6072C>G	ENSP00000509289.1:p.Ser2024=
ENST00000693677.1:c.704+292C>G	ENSP00000509779.1:n.704+292C>G
ENST00000420124.4:c.6072C>G MANE Select	ENSP00000398837.2:p.Ser2024=
ENST00000673918.1:c.6006C>G	ENSP00000501283.1:p.Ser2002=
ENST00000674114.1:c.3394C>G
ENST00000420124.2:c.6072C>G	ENSP00000398837.1:p.Ser2024=
NM_014727.2:c.6072C>G	NP_055542.1:p.Ser2024=
XM_011527561.1:c.6006C>G	XP_011525863.1:p.Ser2002=
XM_011527562.1:c.6072C>G	XP_011525864.1:p.Ser2024=
XM_011527563.1:c.5796C>G	XP_011525865.1:p.Ser1932=
XM_011527561.2:c.5508C>G	XP_011525863.2:p.Ser1836=
XM_011527562.2:c.6072C>G	XP_011525864.1:p.Ser2024=
XM_017027544.1:c.6072C>G	XP_016883033.1:p.Ser2024=
XM_017027545.1:c.5508C>G	XP_016883034.1:p.Ser1836=
XM_017027546.1:c.3036C>G	XP_016883035.1:p.Ser1012=
NM_014727.3:c.6072C>G MANE Select	NP_055542.1:p.Ser2024=