Canonical Allele Identifier: CA405392679

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36211891G>C (hg19) ; chr19:g.35720989G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35720989G>C , CM000681.2:g.35720989G>C	GRCh38
NC_000019.9:g.36211891G>C , CM000681.1:g.36211891G>C	GRCh37
NC_000019.8:g.40903731G>C	NCBI36
NG_052906.1:g.7971G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000673918.2:c.1576G>C	ENSP00000501283.1:p.Asp526His
ENST00000687718.1:c.*1143G>C	ENSP00000510535.1:n.*1143G>C
ENST00000689139.1:c.1140G>C
ENST00000691855.1:c.1140G>C
ENST00000692961.1:c.1642G>C	ENSP00000509289.1:p.Asp548His
ENST00000420124.4:c.1642G>C MANE Select	ENSP00000398837.2:p.Asp548His
ENST00000673918.1:c.1576G>C	ENSP00000501283.1:p.Asp526His
ENST00000420124.2:c.1642G>C	ENSP00000398837.1:p.Asp548His
ENST00000606995.2:n.39+49G>C
NM_014727.2:c.1642G>C	NP_055542.1:p.Asp548His
XM_011527561.1:c.1576G>C	XP_011525863.1:p.Asp526His
XM_011527562.1:c.1642G>C	XP_011525864.1:p.Asp548His
XM_011527563.1:c.1642G>C	XP_011525865.1:p.Asp548His
XR_935878.1:n.1666G>C
XM_011527561.2:c.1078G>C	XP_011525863.2:p.Asp360His
XM_011527562.2:c.1642G>C	XP_011525864.1:p.Asp548His
XM_017027544.1:c.1642G>C	XP_016883033.1:p.Asp548His
XM_017027545.1:c.1078G>C	XP_016883034.1:p.Asp360His
XR_935878.2:n.1843G>C
NM_014727.3:c.1642G>C MANE Select	NP_055542.1:p.Asp548His