Canonical Allele Identifier: CA405419017

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36220947G>C (hg19) ; chr19:g.35730046G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35730046G>C , CM000681.2:g.35730046G>C	GRCh38
NC_000019.9:g.36220947G>C , CM000681.1:g.36220947G>C	GRCh37
NC_000019.8:g.40912787G>C	NCBI36
NG_052906.1:g.17028G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000673918.2:c.4931G>C	ENSP00000501283.1:p.Cys1644Ser
ENST00000674114.2:c.2538G>C	ENSP00000501039.2:n.2538G>C
ENST00000684977.1:c.215G>C	ENSP00000509384.1:p.Cys72Ser
ENST00000685168.1:c.423G>C
ENST00000689544.1:n.150G>C
ENST00000691421.1:c.218G>C	ENSP00000508674.1:p.Cys73Ser
ENST00000691855.1:c.4539G>C
ENST00000692961.1:c.4997G>C	ENSP00000509289.1:p.Cys1666Ser
ENST00000420124.4:c.4997G>C MANE Select	ENSP00000398837.2:p.Cys1666Ser
ENST00000673918.1:c.4931G>C	ENSP00000501283.1:p.Cys1644Ser
ENST00000674114.1:c.2319G>C
ENST00000420124.2:c.4997G>C	ENSP00000398837.1:p.Cys1666Ser
NM_014727.2:c.4997G>C	NP_055542.1:p.Cys1666Ser
XM_011527561.1:c.4931G>C	XP_011525863.1:p.Cys1644Ser
XM_011527562.1:c.4997G>C	XP_011525864.1:p.Cys1666Ser
XM_011527563.1:c.4721G>C	XP_011525865.1:p.Cys1574Ser
XM_011527561.2:c.4433G>C	XP_011525863.2:p.Cys1478Ser
XM_011527562.2:c.4997G>C	XP_011525864.1:p.Cys1666Ser
XM_017027544.1:c.4997G>C	XP_016883033.1:p.Cys1666Ser
XM_017027545.1:c.4433G>C	XP_016883034.1:p.Cys1478Ser
XM_017027546.1:c.1961G>C	XP_016883035.1:p.Cys654Ser
NM_014727.3:c.4997G>C MANE Select	NP_055542.1:p.Cys1666Ser