Canonical Allele Identifier: CA9385273

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 1903669
• ClinVar RCV Id: RCV002586529
• dbSNP Id: rs774674035
• ExAC: 19:36220969 C / T
• gnomAD v2: 19-36220969-C-T
• gnomAD v3: 19-35730068-C-T
• gnomAD v4: 19-35730068-C-T
• MyVariant Identifiers: chr19:g.36220969C>T (hg19) ; chr19:g.35730068C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35730068C>T , CM000681.2:g.35730068C>T	GRCh38
NC_000019.9:g.36220969C>T , CM000681.1:g.36220969C>T	GRCh37
NC_000019.8:g.40912809C>T	NCBI36
NG_052906.1:g.17050C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673918.2:c.4953C>T	ENSP00000501283.1:p.Ile1651=
ENST00000674114.2:c.2560C>T	ENSP00000501039.2:n.2560C>T
ENST00000684977.1:c.237C>T	ENSP00000509384.1:p.Ile79=
ENST00000685168.1:c.445C>T
ENST00000689544.1:n.172C>T
ENST00000691421.1:c.240C>T	ENSP00000508674.1:p.Ile80=
ENST00000691855.1:c.4561C>T
ENST00000692961.1:c.5019C>T	ENSP00000509289.1:p.Ile1673=
ENST00000420124.4:c.5019C>T MANE Select	ENSP00000398837.2:p.Ile1673=
ENST00000673918.1:c.4953C>T	ENSP00000501283.1:p.Ile1651=
ENST00000674114.1:c.2341C>T
ENST00000420124.2:c.5019C>T	ENSP00000398837.1:p.Ile1673=
NM_014727.2:c.5019C>T	NP_055542.1:p.Ile1673=
XM_011527561.1:c.4953C>T	XP_011525863.1:p.Ile1651=
XM_011527562.1:c.5019C>T	XP_011525864.1:p.Ile1673=
XM_011527563.1:c.4743C>T	XP_011525865.1:p.Ile1581=
XM_011527561.2:c.4455C>T	XP_011525863.2:p.Ile1485=
XM_011527562.2:c.5019C>T	XP_011525864.1:p.Ile1673=
XM_017027544.1:c.5019C>T	XP_016883033.1:p.Ile1673=
XM_017027545.1:c.4455C>T	XP_016883034.1:p.Ile1485=
XM_017027546.1:c.1983C>T	XP_016883035.1:p.Ile661=
NM_014727.3:c.5019C>T MANE Select	NP_055542.1:p.Ile1673=