Canonical Allele Identifier: CA405419032

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36220950C>A (hg19) ; chr19:g.35730049C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35730049C>A , CM000681.2:g.35730049C>A	GRCh38
NC_000019.9:g.36220950C>A , CM000681.1:g.36220950C>A	GRCh37
NC_000019.8:g.40912790C>A	NCBI36
NG_052906.1:g.17031C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000673918.2:c.4934C>A	ENSP00000501283.1:p.Ala1645Asp
ENST00000674114.2:c.2541C>A	ENSP00000501039.2:n.2541C>A
ENST00000684977.1:c.218C>A	ENSP00000509384.1:p.Ala73Asp
ENST00000685168.1:c.426C>A
ENST00000689544.1:n.153C>A
ENST00000691421.1:c.221C>A	ENSP00000508674.1:p.Ala74Asp
ENST00000691855.1:c.4542C>A
ENST00000692961.1:c.5000C>A	ENSP00000509289.1:p.Ala1667Asp
ENST00000420124.4:c.5000C>A MANE Select	ENSP00000398837.2:p.Ala1667Asp
ENST00000673918.1:c.4934C>A	ENSP00000501283.1:p.Ala1645Asp
ENST00000674114.1:c.2322C>A
ENST00000420124.2:c.5000C>A	ENSP00000398837.1:p.Ala1667Asp
NM_014727.2:c.5000C>A	NP_055542.1:p.Ala1667Asp
XM_011527561.1:c.4934C>A	XP_011525863.1:p.Ala1645Asp
XM_011527562.1:c.5000C>A	XP_011525864.1:p.Ala1667Asp
XM_011527563.1:c.4724C>A	XP_011525865.1:p.Ala1575Asp
XM_011527561.2:c.4436C>A	XP_011525863.2:p.Ala1479Asp
XM_011527562.2:c.5000C>A	XP_011525864.1:p.Ala1667Asp
XM_017027544.1:c.5000C>A	XP_016883033.1:p.Ala1667Asp
XM_017027545.1:c.4436C>A	XP_016883034.1:p.Ala1479Asp
XM_017027546.1:c.1964C>A	XP_016883035.1:p.Ala655Asp
NM_014727.3:c.5000C>A MANE Select	NP_055542.1:p.Ala1667Asp