Canonical Allele Identifier: CA405419024

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36220948T>G (hg19) ; chr19:g.35730047T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35730047T>G , CM000681.2:g.35730047T>G	GRCh38
NC_000019.9:g.36220948T>G , CM000681.1:g.36220948T>G	GRCh37
NC_000019.8:g.40912788T>G	NCBI36
NG_052906.1:g.17029T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000673918.2:c.4932T>G	ENSP00000501283.1:p.Cys1644Trp
ENST00000674114.2:c.2539T>G	ENSP00000501039.2:n.2539T>G
ENST00000684977.1:c.216T>G	ENSP00000509384.1:p.Cys72Trp
ENST00000685168.1:c.424T>G
ENST00000689544.1:n.151T>G
ENST00000691421.1:c.219T>G	ENSP00000508674.1:p.Cys73Trp
ENST00000691855.1:c.4540T>G
ENST00000692961.1:c.4998T>G	ENSP00000509289.1:p.Cys1666Trp
ENST00000420124.4:c.4998T>G MANE Select	ENSP00000398837.2:p.Cys1666Trp
ENST00000673918.1:c.4932T>G	ENSP00000501283.1:p.Cys1644Trp
ENST00000674114.1:c.2320T>G
ENST00000420124.2:c.4998T>G	ENSP00000398837.1:p.Cys1666Trp
NM_014727.2:c.4998T>G	NP_055542.1:p.Cys1666Trp
XM_011527561.1:c.4932T>G	XP_011525863.1:p.Cys1644Trp
XM_011527562.1:c.4998T>G	XP_011525864.1:p.Cys1666Trp
XM_011527563.1:c.4722T>G	XP_011525865.1:p.Cys1574Trp
XM_011527561.2:c.4434T>G	XP_011525863.2:p.Cys1478Trp
XM_011527562.2:c.4998T>G	XP_011525864.1:p.Cys1666Trp
XM_017027544.1:c.4998T>G	XP_016883033.1:p.Cys1666Trp
XM_017027545.1:c.4434T>G	XP_016883034.1:p.Cys1478Trp
XM_017027546.1:c.1962T>G	XP_016883035.1:p.Cys654Trp
NM_014727.3:c.4998T>G MANE Select	NP_055542.1:p.Cys1666Trp