Canonical Allele Identifier: CA405418702

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 522861
• ClinVar RCV Id: RCV000626041
• dbSNP Id: rs1555731819
• MyVariant Identifiers: chr19:g.36220881G>T (hg19) ; chr19:g.35729980G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35729980G>T , CM000681.2:g.35729980G>T	GRCh38
NC_000019.9:g.36220881G>T , CM000681.1:g.36220881G>T	GRCh37
NC_000019.8:g.40912721G>T	NCBI36
NG_052906.1:g.16962G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673918.2:c.4865G>T	ENSP00000501283.1:p.Cys1622Phe
ENST00000674114.2:c.2472G>T	ENSP00000501039.2:n.2472G>T
ENST00000684977.1:c.149G>T	ENSP00000509384.1:p.Cys50Phe
ENST00000685168.1:c.357G>T
ENST00000689544.1:n.84G>T
ENST00000691421.1:c.152G>T	ENSP00000508674.1:p.Cys51Phe
ENST00000691855.1:c.4473G>T
ENST00000692961.1:c.4931G>T	ENSP00000509289.1:p.Cys1644Phe
ENST00000420124.4:c.4931G>T MANE Select	ENSP00000398837.2:p.Cys1644Phe
ENST00000673918.1:c.4865G>T	ENSP00000501283.1:p.Cys1622Phe
ENST00000674114.1:c.2253G>T
ENST00000420124.2:c.4931G>T	ENSP00000398837.1:p.Cys1644Phe
NM_014727.2:c.4931G>T	NP_055542.1:p.Cys1644Phe
XM_011527561.1:c.4865G>T	XP_011525863.1:p.Cys1622Phe
XM_011527562.1:c.4931G>T	XP_011525864.1:p.Cys1644Phe
XM_011527563.1:c.4655G>T	XP_011525865.1:p.Cys1552Phe
XM_011527561.2:c.4367G>T	XP_011525863.2:p.Cys1456Phe
XM_011527562.2:c.4931G>T	XP_011525864.1:p.Cys1644Phe
XM_017027544.1:c.4931G>T	XP_016883033.1:p.Cys1644Phe
XM_017027545.1:c.4367G>T	XP_016883034.1:p.Cys1456Phe
XM_017027546.1:c.1895G>T	XP_016883035.1:p.Cys632Phe
NM_014727.3:c.4931G>T MANE Select	NP_055542.1:p.Cys1644Phe