Canonical Allele Identifier: CA9385664

Gene: KMT2B

Linked Data

• dbSNP Id: rs771441672
• ExAC: 19:36223766 C / T
• gnomAD v2: 19-36223766-C-T
• gnomAD v4: 19-35732865-C-T
• MyVariant Identifiers: chr19:g.36223766C>T (hg19) ; chr19:g.35732865C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732865C>T , CM000681.2:g.35732865C>T	GRCh38
NC_000019.9:g.36223766C>T , CM000681.1:g.36223766C>T	GRCh37
NC_000019.8:g.40915606C>T	NCBI36
NG_052906.1:g.19847C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000592092.2:n.622C>T
ENST00000673918.2:c.6250C>T	ENSP00000501283.1:p.Pro2084Ser
ENST00000674114.2:c.3857C>T	ENSP00000501039.2:n.3857C>T
ENST00000684977.1:c.1534C>T	ENSP00000509384.1:p.Pro512Ser
ENST00000689544.1:n.1469C>T
ENST00000691421.1:c.1537C>T	ENSP00000508674.1:p.Pro513Ser
ENST00000691855.1:c.5858C>T
ENST00000692961.1:c.6316C>T	ENSP00000509289.1:p.Pro2106Ser
ENST00000693677.1:c.704+536C>T	ENSP00000509779.1:n.704+536C>T
ENST00000420124.4:c.6316C>T MANE Select	ENSP00000398837.2:p.Pro2106Ser
ENST00000673918.1:c.6250C>T	ENSP00000501283.1:p.Pro2084Ser
ENST00000674114.1:c.3638C>T
ENST00000420124.2:c.6316C>T	ENSP00000398837.1:p.Pro2106Ser
NM_014727.2:c.6316C>T	NP_055542.1:p.Pro2106Ser
XM_011527561.1:c.6250C>T	XP_011525863.1:p.Pro2084Ser
XM_011527562.1:c.6316C>T	XP_011525864.1:p.Pro2106Ser
XM_011527563.1:c.6040C>T	XP_011525865.1:p.Pro2014Ser
XM_011527561.2:c.5752C>T	XP_011525863.2:p.Pro1918Ser
XM_011527562.2:c.6316C>T	XP_011525864.1:p.Pro2106Ser
XM_017027544.1:c.6316C>T	XP_016883033.1:p.Pro2106Ser
XM_017027545.1:c.5752C>T	XP_016883034.1:p.Pro1918Ser
XM_017027546.1:c.3280C>T	XP_016883035.1:p.Pro1094Ser
NM_014727.3:c.6316C>T MANE Select	NP_055542.1:p.Pro2106Ser