Canonical Allele Identifier: CA2580613112

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 2019601
• ClinVar RCV Id: RCV002851940

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732906_35732908dup , CM000681.2:g.35732906_35732908dup	GRCh38
NC_000019.9:g.36223807_36223809dup , CM000681.1:g.36223807_36223809dup	GRCh37
NC_000019.8:g.40915647_40915649dup	NCBI36
NG_052906.1:g.19888_19890dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.663_665dup
ENST00000673918.2:c.6291_6293dup	ENSP00000501283.1:p.Lys2097_Asn2098insLys
ENST00000674114.2:c.3898_3900dup	ENSP00000501039.2:n.3898_3900dup
ENST00000684977.1:c.1575_1577dup	ENSP00000509384.1:p.Lys525_Asn526insLys
ENST00000689544.1:n.1510_1512dup
ENST00000691421.1:c.1578_1580dup	ENSP00000508674.1:p.Lys526_Asn527insLys
ENST00000691855.1:c.5899_5901dup
ENST00000692961.1:c.6357_6359dup	ENSP00000509289.1:p.Lys2119_Asn2120insLys
ENST00000693677.1:c.704+577_704+579dup	ENSP00000509779.1:n.704+577_704+579dup
ENST00000420124.4:c.6357_6359dup MANE Select	ENSP00000398837.2:p.Lys2119_Asn2120insLys
ENST00000673918.1:c.6291_6293dup	ENSP00000501283.1:p.Lys2097_Asn2098insLys
ENST00000674114.1:c.3679_3681dup
ENST00000420124.2:c.6357_6359dup	ENSP00000398837.1:p.Lys2119_Asn2120insLys
NM_014727.2:c.6357_6359dup	NP_055542.1:p.Lys2119_Asn2120insLys
XM_011527561.1:c.6291_6293dup	XP_011525863.1:p.Lys2097_Asn2098insLys
XM_011527562.1:c.6357_6359dup	XP_011525864.1:p.Lys2119_Asn2120insLys
XM_011527563.1:c.6081_6083dup	XP_011525865.1:p.Lys2027_Asn2028insLys
XM_011527561.2:c.5793_5795dup	XP_011525863.2:p.Lys1931_Asn1932insLys
XM_011527562.2:c.6357_6359dup	XP_011525864.1:p.Lys2119_Asn2120insLys
XM_017027544.1:c.6357_6359dup	XP_016883033.1:p.Lys2119_Asn2120insLys
XM_017027545.1:c.5793_5795dup	XP_016883034.1:p.Lys1931_Asn1932insLys
XM_017027546.1:c.3321_3323dup	XP_016883035.1:p.Lys1107_Asn1108insLys
NM_014727.3:c.6357_6359dup MANE Select	NP_055542.1:p.Lys2119_Asn2120insLys