Canonical Allele Identifier: CA2580096849

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 2009658
• ClinVar RCV Id: RCV002842582

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35730142G>C , CM000681.2:g.35730142G>C	GRCh38
NC_000019.9:g.36221043G>C , CM000681.1:g.36221043G>C	GRCh37
NC_000019.8:g.40912883G>C	NCBI36
NG_052906.1:g.17124G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673918.2:c.5010+17G>C	ENSP00000501283.1:n.5010+17G>C
ENST00000674114.2:c.2617+17G>C	ENSP00000501039.2:n.2617+17G>C
ENST00000684977.1:c.294+17G>C	ENSP00000509384.1:n.294+17G>C
ENST00000685168.1:c.502+17G>C
ENST00000689544.1:n.229+17G>C
ENST00000691421.1:c.297+17G>C	ENSP00000508674.1:n.297+17G>C
ENST00000691855.1:c.4618+17G>C
ENST00000692961.1:c.5076+17G>C	ENSP00000509289.1:n.5076+17G>C
ENST00000420124.4:c.5076+17G>C MANE Select	ENSP00000398837.2:n.5076+17G>C
ENST00000673918.1:c.5010+17G>C	ENSP00000501283.1:n.5010+17G>C
ENST00000674114.1:c.2398+17G>C
ENST00000420124.2:c.5076+17G>C	ENSP00000398837.1:n.5076+17G>C
NM_014727.2:c.5076+17G>C	NP_055542.1:n.5076+17G>C
XM_011527561.1:c.5010+17G>C	XP_011525863.1:n.5010+17G>C
XM_011527562.1:c.5076+17G>C	XP_011525864.1:n.5076+17G>C
XM_011527563.1:c.4800+17G>C	XP_011525865.1:n.4800+17G>C
XM_011527561.2:c.4512+17G>C	XP_011525863.2:n.4512+17G>C
XM_011527562.2:c.5076+17G>C	XP_011525864.1:n.5076+17G>C
XM_017027544.1:c.5076+17G>C	XP_016883033.1:n.5076+17G>C
XM_017027545.1:c.4512+17G>C	XP_016883034.1:n.4512+17G>C
XM_017027546.1:c.2040+17G>C	XP_016883035.1:n.2040+17G>C
NM_014727.3:c.5076+17G>C MANE Select	NP_055542.1:n.5076+17G>C