Canonical Allele Identifier: CA405418879

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36220919T>C (hg19) ; chr19:g.35730018T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35730018T>C , CM000681.2:g.35730018T>C	GRCh38
NC_000019.9:g.36220919T>C , CM000681.1:g.36220919T>C	GRCh37
NC_000019.8:g.40912759T>C	NCBI36
NG_052906.1:g.17000T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673918.2:c.4903T>C	ENSP00000501283.1:p.Ser1635Pro
ENST00000674114.2:c.2510T>C	ENSP00000501039.2:n.2510T>C
ENST00000684977.1:c.187T>C	ENSP00000509384.1:p.Ser63Pro
ENST00000685168.1:c.395T>C
ENST00000689544.1:n.122T>C
ENST00000691421.1:c.190T>C	ENSP00000508674.1:p.Ser64Pro
ENST00000691855.1:c.4511T>C
ENST00000692961.1:c.4969T>C	ENSP00000509289.1:p.Ser1657Pro
ENST00000420124.4:c.4969T>C MANE Select	ENSP00000398837.2:p.Ser1657Pro
ENST00000673918.1:c.4903T>C	ENSP00000501283.1:p.Ser1635Pro
ENST00000674114.1:c.2291T>C
ENST00000420124.2:c.4969T>C	ENSP00000398837.1:p.Ser1657Pro
NM_014727.2:c.4969T>C	NP_055542.1:p.Ser1657Pro
XM_011527561.1:c.4903T>C	XP_011525863.1:p.Ser1635Pro
XM_011527562.1:c.4969T>C	XP_011525864.1:p.Ser1657Pro
XM_011527563.1:c.4693T>C	XP_011525865.1:p.Ser1565Pro
XM_011527561.2:c.4405T>C	XP_011525863.2:p.Ser1469Pro
XM_011527562.2:c.4969T>C	XP_011525864.1:p.Ser1657Pro
XM_017027544.1:c.4969T>C	XP_016883033.1:p.Ser1657Pro
XM_017027545.1:c.4405T>C	XP_016883034.1:p.Ser1469Pro
XM_017027546.1:c.1933T>C	XP_016883035.1:p.Ser645Pro
NM_014727.3:c.4969T>C MANE Select	NP_055542.1:p.Ser1657Pro