Canonical Allele Identifier: CA405431496

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36224669T>C (hg19) ; chr19:g.35733768T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733768T>C , CM000681.2:g.35733768T>C	GRCh38
NC_000019.9:g.36224669T>C , CM000681.1:g.36224669T>C	GRCh37
NC_000019.8:g.40916509T>C	NCBI36
NG_052906.1:g.20750T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000592092.2:n.1525T>C
ENST00000673918.2:c.6989T>C	ENSP00000501283.1:p.Leu2330Pro
ENST00000674114.2:c.4596T>C	ENSP00000501039.2:n.4596T>C
ENST00000684977.1:c.2250T>C	ENSP00000509384.1:n.2250T>C
ENST00000689544.1:n.2296T>C
ENST00000689929.1:c.6T>C
ENST00000691421.1:c.2186T>C	ENSP00000508674.1:p.Leu729Pro
ENST00000691855.1:c.6597T>C
ENST00000692961.1:c.6979T>C	ENSP00000509289.1:p.Ser2327Pro
ENST00000693175.1:c.6T>C
ENST00000693677.1:c.800T>C	ENSP00000509779.1:p.Leu267Pro
ENST00000420124.4:c.7055T>C MANE Select	ENSP00000398837.2:p.Leu2352Pro
ENST00000673918.1:c.6989T>C	ENSP00000501283.1:p.Leu2330Pro
ENST00000674114.1:c.4377T>C
ENST00000420124.2:c.7055T>C	ENSP00000398837.1:p.Leu2352Pro
ENST00000592092.1:n.435T>C
NM_014727.2:c.7055T>C	NP_055542.1:p.Leu2352Pro
XM_011527561.1:c.6989T>C	XP_011525863.1:p.Leu2330Pro
XM_011527562.1:c.7055T>C	XP_011525864.1:p.Leu2352Pro
XM_011527563.1:c.6779T>C	XP_011525865.1:p.Leu2260Pro
XM_011527561.2:c.6491T>C	XP_011525863.2:p.Leu2164Pro
XM_011527562.2:c.7055T>C	XP_011525864.1:p.Leu2352Pro
XM_017027544.1:c.6965T>C	XP_016883033.1:p.Leu2322Pro
XM_017027545.1:c.6491T>C	XP_016883034.1:p.Leu2164Pro
XM_017027546.1:c.4019T>C	XP_016883035.1:p.Leu1340Pro
NM_014727.3:c.7055T>C MANE Select	NP_055542.1:p.Leu2352Pro