Canonical Allele Identifier: CA405418637

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36220869G>C (hg19) ; chr19:g.35729968G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35729968G>C , CM000681.2:g.35729968G>C	GRCh38
NC_000019.9:g.36220869G>C , CM000681.1:g.36220869G>C	GRCh37
NC_000019.8:g.40912709G>C	NCBI36
NG_052906.1:g.16950G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000673918.2:c.4853G>C	ENSP00000501283.1:p.Arg1618Pro
ENST00000674114.2:c.2460G>C	ENSP00000501039.2:n.2460G>C
ENST00000684977.1:c.137G>C	ENSP00000509384.1:p.Arg46Pro
ENST00000685168.1:c.345G>C
ENST00000689544.1:n.72G>C
ENST00000691421.1:c.140G>C	ENSP00000508674.1:p.Arg47Pro
ENST00000691855.1:c.4461G>C
ENST00000692961.1:c.4919G>C	ENSP00000509289.1:p.Arg1640Pro
ENST00000420124.4:c.4919G>C MANE Select	ENSP00000398837.2:p.Arg1640Pro
ENST00000673918.1:c.4853G>C	ENSP00000501283.1:p.Arg1618Pro
ENST00000674114.1:c.2241G>C
ENST00000420124.2:c.4919G>C	ENSP00000398837.1:p.Arg1640Pro
NM_014727.2:c.4919G>C	NP_055542.1:p.Arg1640Pro
XM_011527561.1:c.4853G>C	XP_011525863.1:p.Arg1618Pro
XM_011527562.1:c.4919G>C	XP_011525864.1:p.Arg1640Pro
XM_011527563.1:c.4643G>C	XP_011525865.1:p.Arg1548Pro
XM_011527561.2:c.4355G>C	XP_011525863.2:p.Arg1452Pro
XM_011527562.2:c.4919G>C	XP_011525864.1:p.Arg1640Pro
XM_017027544.1:c.4919G>C	XP_016883033.1:p.Arg1640Pro
XM_017027545.1:c.4355G>C	XP_016883034.1:p.Arg1452Pro
XM_017027546.1:c.1883G>C	XP_016883035.1:p.Arg628Pro
NM_014727.3:c.4919G>C MANE Select	NP_055542.1:p.Arg1640Pro