Canonical Allele Identifier: CA9385841

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 1941288
• ClinVar RCV Id: RCV002653525
• dbSNP Id: rs751116452
• ExAC: 19:36224666 C / T
• gnomAD v2: 19-36224666-C-T
• gnomAD v4: 19-35733765-C-T
• MyVariant Identifiers: chr19:g.36224666C>T (hg19) ; chr19:g.35733765C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733765C>T , CM000681.2:g.35733765C>T	GRCh38
NC_000019.9:g.36224666C>T , CM000681.1:g.36224666C>T	GRCh37
NC_000019.8:g.40916506C>T	NCBI36
NG_052906.1:g.20747C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000592092.2:n.1522C>T
ENST00000673918.2:c.6986C>T	ENSP00000501283.1:p.Pro2329Leu
ENST00000674114.2:c.4593C>T	ENSP00000501039.2:n.4593C>T
ENST00000684977.1:c.2247C>T	ENSP00000509384.1:n.2247C>T
ENST00000689544.1:n.2293C>T
ENST00000689929.1:c.3C>T
ENST00000691421.1:c.2183C>T	ENSP00000508674.1:p.Pro728Leu
ENST00000691855.1:c.6594C>T
ENST00000692961.1:c.6976C>T	ENSP00000509289.1:p.Pro2326Ser
ENST00000693175.1:c.3C>T
ENST00000693677.1:c.797C>T	ENSP00000509779.1:p.Pro266Leu
ENST00000420124.4:c.7052C>T MANE Select	ENSP00000398837.2:p.Pro2351Leu
ENST00000673918.1:c.6986C>T	ENSP00000501283.1:p.Pro2329Leu
ENST00000674114.1:c.4374C>T
ENST00000420124.2:c.7052C>T	ENSP00000398837.1:p.Pro2351Leu
ENST00000592092.1:n.432C>T
NM_014727.2:c.7052C>T	NP_055542.1:p.Pro2351Leu
XM_011527561.1:c.6986C>T	XP_011525863.1:p.Pro2329Leu
XM_011527562.1:c.7052C>T	XP_011525864.1:p.Pro2351Leu
XM_011527563.1:c.6776C>T	XP_011525865.1:p.Pro2259Leu
XM_011527561.2:c.6488C>T	XP_011525863.2:p.Pro2163Leu
XM_011527562.2:c.7052C>T	XP_011525864.1:p.Pro2351Leu
XM_017027544.1:c.6962C>T	XP_016883033.1:p.Pro2321Leu
XM_017027545.1:c.6488C>T	XP_016883034.1:p.Pro2163Leu
XM_017027546.1:c.4016C>T	XP_016883035.1:p.Pro1339Leu
NM_014727.3:c.7052C>T MANE Select	NP_055542.1:p.Pro2351Leu