Canonical Allele Identifier: CA405418911

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36220929G>T (hg19) ; chr19:g.35730028G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35730028G>T , CM000681.2:g.35730028G>T	GRCh38
NC_000019.9:g.36220929G>T , CM000681.1:g.36220929G>T	GRCh37
NC_000019.8:g.40912769G>T	NCBI36
NG_052906.1:g.17010G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673918.2:c.4913G>T	ENSP00000501283.1:p.Ser1638Ile
ENST00000674114.2:c.2520G>T	ENSP00000501039.2:n.2520G>T
ENST00000684977.1:c.197G>T	ENSP00000509384.1:p.Ser66Ile
ENST00000685168.1:c.405G>T
ENST00000689544.1:n.132G>T
ENST00000691421.1:c.200G>T	ENSP00000508674.1:p.Ser67Ile
ENST00000691855.1:c.4521G>T
ENST00000692961.1:c.4979G>T	ENSP00000509289.1:p.Ser1660Ile
ENST00000420124.4:c.4979G>T MANE Select	ENSP00000398837.2:p.Ser1660Ile
ENST00000673918.1:c.4913G>T	ENSP00000501283.1:p.Ser1638Ile
ENST00000674114.1:c.2301G>T
ENST00000420124.2:c.4979G>T	ENSP00000398837.1:p.Ser1660Ile
NM_014727.2:c.4979G>T	NP_055542.1:p.Ser1660Ile
XM_011527561.1:c.4913G>T	XP_011525863.1:p.Ser1638Ile
XM_011527562.1:c.4979G>T	XP_011525864.1:p.Ser1660Ile
XM_011527563.1:c.4703G>T	XP_011525865.1:p.Ser1568Ile
XM_011527561.2:c.4415G>T	XP_011525863.2:p.Ser1472Ile
XM_011527562.2:c.4979G>T	XP_011525864.1:p.Ser1660Ile
XM_017027544.1:c.4979G>T	XP_016883033.1:p.Ser1660Ile
XM_017027545.1:c.4415G>T	XP_016883034.1:p.Ser1472Ile
XM_017027546.1:c.1943G>T	XP_016883035.1:p.Ser648Ile
NM_014727.3:c.4979G>T MANE Select	NP_055542.1:p.Ser1660Ile