Canonical Allele Identifier: CA405431461

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36224665C>A (hg19) ; chr19:g.35733764C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733764C>A , CM000681.2:g.35733764C>A	GRCh38
NC_000019.9:g.36224665C>A , CM000681.1:g.36224665C>A	GRCh37
NC_000019.8:g.40916505C>A	NCBI36
NG_052906.1:g.20746C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000592092.2:n.1521C>A
ENST00000673918.2:c.6985C>A	ENSP00000501283.1:p.Pro2329Thr
ENST00000674114.2:c.4592C>A	ENSP00000501039.2:n.4592C>A
ENST00000684977.1:c.2246C>A	ENSP00000509384.1:n.2246C>A
ENST00000689544.1:n.2292C>A
ENST00000689929.1:c.2C>A
ENST00000691421.1:c.2182C>A	ENSP00000508674.1:p.Pro728Thr
ENST00000691855.1:c.6593C>A
ENST00000692961.1:c.6975C>A	ENSP00000509289.1:p.Gly2325=
ENST00000693175.1:c.2C>A
ENST00000693677.1:c.796C>A	ENSP00000509779.1:p.Pro266Thr
ENST00000420124.4:c.7051C>A MANE Select	ENSP00000398837.2:p.Pro2351Thr
ENST00000673918.1:c.6985C>A	ENSP00000501283.1:p.Pro2329Thr
ENST00000674114.1:c.4373C>A
ENST00000420124.2:c.7051C>A	ENSP00000398837.1:p.Pro2351Thr
ENST00000592092.1:n.431C>A
NM_014727.2:c.7051C>A	NP_055542.1:p.Pro2351Thr
XM_011527561.1:c.6985C>A	XP_011525863.1:p.Pro2329Thr
XM_011527562.1:c.7051C>A	XP_011525864.1:p.Pro2351Thr
XM_011527563.1:c.6775C>A	XP_011525865.1:p.Pro2259Thr
XM_011527561.2:c.6487C>A	XP_011525863.2:p.Pro2163Thr
XM_011527562.2:c.7051C>A	XP_011525864.1:p.Pro2351Thr
XM_017027544.1:c.6961C>A	XP_016883033.1:p.Pro2321Thr
XM_017027545.1:c.6487C>A	XP_016883034.1:p.Pro2163Thr
XM_017027546.1:c.4015C>A	XP_016883035.1:p.Pro1339Thr
NM_014727.3:c.7051C>A MANE Select	NP_055542.1:p.Pro2351Thr