Canonical Allele Identifier: CA405418642

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36220871T>A (hg19) ; chr19:g.35729970T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35729970T>A , CM000681.2:g.35729970T>A	GRCh38
NC_000019.9:g.36220871T>A , CM000681.1:g.36220871T>A	GRCh37
NC_000019.8:g.40912711T>A	NCBI36
NG_052906.1:g.16952T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673918.2:c.4855T>A	ENSP00000501283.1:p.Cys1619Ser
ENST00000674114.2:c.2462T>A	ENSP00000501039.2:n.2462T>A
ENST00000684977.1:c.139T>A	ENSP00000509384.1:p.Cys47Ser
ENST00000685168.1:c.347T>A
ENST00000689544.1:n.74T>A
ENST00000691421.1:c.142T>A	ENSP00000508674.1:p.Cys48Ser
ENST00000691855.1:c.4463T>A
ENST00000692961.1:c.4921T>A	ENSP00000509289.1:p.Cys1641Ser
ENST00000420124.4:c.4921T>A MANE Select	ENSP00000398837.2:p.Cys1641Ser
ENST00000673918.1:c.4855T>A	ENSP00000501283.1:p.Cys1619Ser
ENST00000674114.1:c.2243T>A
ENST00000420124.2:c.4921T>A	ENSP00000398837.1:p.Cys1641Ser
NM_014727.2:c.4921T>A	NP_055542.1:p.Cys1641Ser
XM_011527561.1:c.4855T>A	XP_011525863.1:p.Cys1619Ser
XM_011527562.1:c.4921T>A	XP_011525864.1:p.Cys1641Ser
XM_011527563.1:c.4645T>A	XP_011525865.1:p.Cys1549Ser
XM_011527561.2:c.4357T>A	XP_011525863.2:p.Cys1453Ser
XM_011527562.2:c.4921T>A	XP_011525864.1:p.Cys1641Ser
XM_017027544.1:c.4921T>A	XP_016883033.1:p.Cys1641Ser
XM_017027545.1:c.4357T>A	XP_016883034.1:p.Cys1453Ser
XM_017027546.1:c.1885T>A	XP_016883035.1:p.Cys629Ser
NM_014727.3:c.4921T>A MANE Select	NP_055542.1:p.Cys1641Ser