Canonical Allele Identifier: CA405418856

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36220914T>C (hg19) ; chr19:g.35730013T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35730013T>C , CM000681.2:g.35730013T>C	GRCh38
NC_000019.9:g.36220914T>C , CM000681.1:g.36220914T>C	GRCh37
NC_000019.8:g.40912754T>C	NCBI36
NG_052906.1:g.16995T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673918.2:c.4898T>C	ENSP00000501283.1:p.Leu1633Pro
ENST00000674114.2:c.2505T>C	ENSP00000501039.2:n.2505T>C
ENST00000684977.1:c.182T>C	ENSP00000509384.1:p.Leu61Pro
ENST00000685168.1:c.390T>C
ENST00000689544.1:n.117T>C
ENST00000691421.1:c.185T>C	ENSP00000508674.1:p.Leu62Pro
ENST00000691855.1:c.4506T>C
ENST00000692961.1:c.4964T>C	ENSP00000509289.1:p.Leu1655Pro
ENST00000420124.4:c.4964T>C MANE Select	ENSP00000398837.2:p.Leu1655Pro
ENST00000673918.1:c.4898T>C	ENSP00000501283.1:p.Leu1633Pro
ENST00000674114.1:c.2286T>C
ENST00000420124.2:c.4964T>C	ENSP00000398837.1:p.Leu1655Pro
NM_014727.2:c.4964T>C	NP_055542.1:p.Leu1655Pro
XM_011527561.1:c.4898T>C	XP_011525863.1:p.Leu1633Pro
XM_011527562.1:c.4964T>C	XP_011525864.1:p.Leu1655Pro
XM_011527563.1:c.4688T>C	XP_011525865.1:p.Leu1563Pro
XM_011527561.2:c.4400T>C	XP_011525863.2:p.Leu1467Pro
XM_011527562.2:c.4964T>C	XP_011525864.1:p.Leu1655Pro
XM_017027544.1:c.4964T>C	XP_016883033.1:p.Leu1655Pro
XM_017027545.1:c.4400T>C	XP_016883034.1:p.Leu1467Pro
XM_017027546.1:c.1928T>C	XP_016883035.1:p.Leu643Pro
NM_014727.3:c.4964T>C MANE Select	NP_055542.1:p.Leu1655Pro