Canonical Allele Identifier: CA405419332

Gene: KMT2B

Linked Data

• gnomAD v4: 19-35730110-T-A
• MyVariant Identifiers: chr19:g.36221011T>A (hg19) ; chr19:g.35730110T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35730110T>A , CM000681.2:g.35730110T>A	GRCh38
NC_000019.9:g.36221011T>A , CM000681.1:g.36221011T>A	GRCh37
NC_000019.8:g.40912851T>A	NCBI36
NG_052906.1:g.17092T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673918.2:c.4995T>A	ENSP00000501283.1:p.Asp1665Glu
ENST00000674114.2:c.2602T>A	ENSP00000501039.2:n.2602T>A
ENST00000684977.1:c.279T>A	ENSP00000509384.1:p.Asp93Glu
ENST00000685168.1:c.487T>A
ENST00000689544.1:n.214T>A
ENST00000691421.1:c.282T>A	ENSP00000508674.1:p.Asp94Glu
ENST00000691855.1:c.4603T>A
ENST00000692961.1:c.5061T>A	ENSP00000509289.1:p.Asp1687Glu
ENST00000420124.4:c.5061T>A MANE Select	ENSP00000398837.2:p.Asp1687Glu
ENST00000673918.1:c.4995T>A	ENSP00000501283.1:p.Asp1665Glu
ENST00000674114.1:c.2383T>A
ENST00000420124.2:c.5061T>A	ENSP00000398837.1:p.Asp1687Glu
NM_014727.2:c.5061T>A	NP_055542.1:p.Asp1687Glu
XM_011527561.1:c.4995T>A	XP_011525863.1:p.Asp1665Glu
XM_011527562.1:c.5061T>A	XP_011525864.1:p.Asp1687Glu
XM_011527563.1:c.4785T>A	XP_011525865.1:p.Asp1595Glu
XM_011527561.2:c.4497T>A	XP_011525863.2:p.Asp1499Glu
XM_011527562.2:c.5061T>A	XP_011525864.1:p.Asp1687Glu
XM_017027544.1:c.5061T>A	XP_016883033.1:p.Asp1687Glu
XM_017027545.1:c.4497T>A	XP_016883034.1:p.Asp1499Glu
XM_017027546.1:c.2025T>A	XP_016883035.1:p.Asp675Glu
NM_014727.3:c.5061T>A MANE Select	NP_055542.1:p.Asp1687Glu