Canonical Allele Identifier: CA405418861

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36220916T>C (hg19) ; chr19:g.35730015T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35730015T>C , CM000681.2:g.35730015T>C	GRCh38
NC_000019.9:g.36220916T>C , CM000681.1:g.36220916T>C	GRCh37
NC_000019.8:g.40912756T>C	NCBI36
NG_052906.1:g.16997T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673918.2:c.4900T>C	ENSP00000501283.1:p.Ser1634Pro
ENST00000674114.2:c.2507T>C	ENSP00000501039.2:n.2507T>C
ENST00000684977.1:c.184T>C	ENSP00000509384.1:p.Ser62Pro
ENST00000685168.1:c.392T>C
ENST00000689544.1:n.119T>C
ENST00000691421.1:c.187T>C	ENSP00000508674.1:p.Ser63Pro
ENST00000691855.1:c.4508T>C
ENST00000692961.1:c.4966T>C	ENSP00000509289.1:p.Ser1656Pro
ENST00000420124.4:c.4966T>C MANE Select	ENSP00000398837.2:p.Ser1656Pro
ENST00000673918.1:c.4900T>C	ENSP00000501283.1:p.Ser1634Pro
ENST00000674114.1:c.2288T>C
ENST00000420124.2:c.4966T>C	ENSP00000398837.1:p.Ser1656Pro
NM_014727.2:c.4966T>C	NP_055542.1:p.Ser1656Pro
XM_011527561.1:c.4900T>C	XP_011525863.1:p.Ser1634Pro
XM_011527562.1:c.4966T>C	XP_011525864.1:p.Ser1656Pro
XM_011527563.1:c.4690T>C	XP_011525865.1:p.Ser1564Pro
XM_011527561.2:c.4402T>C	XP_011525863.2:p.Ser1468Pro
XM_011527562.2:c.4966T>C	XP_011525864.1:p.Ser1656Pro
XM_017027544.1:c.4966T>C	XP_016883033.1:p.Ser1656Pro
XM_017027545.1:c.4402T>C	XP_016883034.1:p.Ser1468Pro
XM_017027546.1:c.1930T>C	XP_016883035.1:p.Ser644Pro
NM_014727.3:c.4966T>C MANE Select	NP_055542.1:p.Ser1656Pro