Canonical Allele Identifier: CA9385567

Gene: KMT2B

Linked Data

• dbSNP Id: rs755692175
• ExAC: 19:36223367 C / T
• gnomAD v2: 19-36223367-C-T
• gnomAD v3: 19-35732466-C-T
• gnomAD v4: 19-35732466-C-T
• MyVariant Identifiers: chr19:g.36223367C>T (hg19) ; chr19:g.35732466C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732466C>T , CM000681.2:g.35732466C>T	GRCh38
NC_000019.9:g.36223367C>T , CM000681.1:g.36223367C>T	GRCh37
NC_000019.8:g.40915207C>T	NCBI36
NG_052906.1:g.19448C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.223C>T
ENST00000673918.2:c.5851C>T	ENSP00000501283.1:p.Leu1951=
ENST00000674114.2:c.3458C>T	ENSP00000501039.2:n.3458C>T
ENST00000684977.1:c.1135C>T	ENSP00000509384.1:p.Leu379=
ENST00000689544.1:n.1070C>T
ENST00000691421.1:c.1138C>T	ENSP00000508674.1:p.Leu380=
ENST00000691855.1:c.5459C>T
ENST00000692961.1:c.5917C>T	ENSP00000509289.1:p.Leu1973=
ENST00000693677.1:c.704+137C>T	ENSP00000509779.1:n.704+137C>T
ENST00000420124.4:c.5917C>T MANE Select	ENSP00000398837.2:p.Leu1973=
ENST00000673918.1:c.5851C>T	ENSP00000501283.1:p.Leu1951=
ENST00000674114.1:c.3239C>T
ENST00000420124.2:c.5917C>T	ENSP00000398837.1:p.Leu1973=
NM_014727.2:c.5917C>T	NP_055542.1:p.Leu1973=
XM_011527561.1:c.5851C>T	XP_011525863.1:p.Leu1951=
XM_011527562.1:c.5917C>T	XP_011525864.1:p.Leu1973=
XM_011527563.1:c.5641C>T	XP_011525865.1:p.Leu1881=
XM_011527561.2:c.5353C>T	XP_011525863.2:p.Leu1785=
XM_011527562.2:c.5917C>T	XP_011525864.1:p.Leu1973=
XM_017027544.1:c.5917C>T	XP_016883033.1:p.Leu1973=
XM_017027545.1:c.5353C>T	XP_016883034.1:p.Leu1785=
XM_017027546.1:c.2881C>T	XP_016883035.1:p.Leu961=
NM_014727.3:c.5917C>T MANE Select	NP_055542.1:p.Leu1973=