Canonical Allele Identifier: CA507072555

Gene: KMT2B

Linked Data

• dbSNP Id: rs1279208780
• gnomAD v2: 19-36220913-C-T
• MyVariant Identifiers: chr19:g.36220913C>T (hg19) ; chr19:g.35730012C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35730012C>T , CM000681.2:g.35730012C>T	GRCh38
NC_000019.9:g.36220913C>T , CM000681.1:g.36220913C>T	GRCh37
NC_000019.8:g.40912753C>T	NCBI36
NG_052906.1:g.16994C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673918.2:c.4897C>T	ENSP00000501283.1:p.Leu1633=
ENST00000674114.2:c.2504C>T	ENSP00000501039.2:n.2504C>T
ENST00000684977.1:c.181C>T	ENSP00000509384.1:p.Leu61=
ENST00000685168.1:c.389C>T
ENST00000689544.1:n.116C>T
ENST00000691421.1:c.184C>T	ENSP00000508674.1:p.Leu62=
ENST00000691855.1:c.4505C>T
ENST00000692961.1:c.4963C>T	ENSP00000509289.1:p.Leu1655=
ENST00000420124.4:c.4963C>T MANE Select	ENSP00000398837.2:p.Leu1655=
ENST00000673918.1:c.4897C>T	ENSP00000501283.1:p.Leu1633=
ENST00000674114.1:c.2285C>T
ENST00000420124.2:c.4963C>T	ENSP00000398837.1:p.Leu1655=
NM_014727.2:c.4963C>T	NP_055542.1:p.Leu1655=
XM_011527561.1:c.4897C>T	XP_011525863.1:p.Leu1633=
XM_011527562.1:c.4963C>T	XP_011525864.1:p.Leu1655=
XM_011527563.1:c.4687C>T	XP_011525865.1:p.Leu1563=
XM_011527561.2:c.4399C>T	XP_011525863.2:p.Leu1467=
XM_011527562.2:c.4963C>T	XP_011525864.1:p.Leu1655=
XM_017027544.1:c.4963C>T	XP_016883033.1:p.Leu1655=
XM_017027545.1:c.4399C>T	XP_016883034.1:p.Leu1467=
XM_017027546.1:c.1927C>T	XP_016883035.1:p.Leu643=
NM_014727.3:c.4963C>T MANE Select	NP_055542.1:p.Leu1655=