Canonical Allele Identifier: CA633059958

Gene: KMT2B

Linked Data

• dbSNP Id: rs1189466438
• gnomAD v2: 19-36220840-C-T
• gnomAD v4: 19-35729939-C-T
• MyVariant Identifiers: chr19:g.36220840C>T (hg19) ; chr19:g.35729939C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35729939C>T , CM000681.2:g.35729939C>T	GRCh38
NC_000019.9:g.36220840C>T , CM000681.1:g.36220840C>T	GRCh37
NC_000019.8:g.40912680C>T	NCBI36
NG_052906.1:g.16921C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000673918.2:c.4852-28C>T	ENSP00000501283.1:n.4852-28C>T
ENST00000674114.2:c.2459-28C>T	ENSP00000501039.2:n.2459-28C>T
ENST00000684977.1:c.136-28C>T	ENSP00000509384.1:n.136-28C>T
ENST00000685168.1:c.344-28C>T
ENST00000689544.1:n.71-28C>T
ENST00000691421.1:c.139-28C>T	ENSP00000508674.1:n.139-28C>T
ENST00000691855.1:c.4460-28C>T
ENST00000692961.1:c.4918-28C>T	ENSP00000509289.1:n.4918-28C>T
ENST00000420124.4:c.4918-28C>T MANE Select	ENSP00000398837.2:n.4918-28C>T
ENST00000673918.1:c.4852-28C>T	ENSP00000501283.1:n.4852-28C>T
ENST00000674114.1:c.2240-28C>T
ENST00000420124.2:c.4918-28C>T	ENSP00000398837.1:n.4918-28C>T
NM_014727.2:c.4918-28C>T	NP_055542.1:n.4918-28C>T
XM_011527561.1:c.4852-28C>T	XP_011525863.1:n.4852-28C>T
XM_011527562.1:c.4918-28C>T	XP_011525864.1:n.4918-28C>T
XM_011527563.1:c.4642-28C>T	XP_011525865.1:n.4642-28C>T
XM_011527561.2:c.4354-28C>T	XP_011525863.2:n.4354-28C>T
XM_011527562.2:c.4918-28C>T	XP_011525864.1:n.4918-28C>T
XM_017027544.1:c.4918-28C>T	XP_016883033.1:n.4918-28C>T
XM_017027545.1:c.4354-28C>T	XP_016883034.1:n.4354-28C>T
XM_017027546.1:c.1882-28C>T	XP_016883035.1:n.1882-28C>T
NM_014727.3:c.4918-28C>T MANE Select	NP_055542.1:n.4918-28C>T