Canonical Allele Identifier: CA405419001

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36220945G>A (hg19) ; chr19:g.35730044G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35730044G>A , CM000681.2:g.35730044G>A	GRCh38
NC_000019.9:g.36220945G>A , CM000681.1:g.36220945G>A	GRCh37
NC_000019.8:g.40912785G>A	NCBI36
NG_052906.1:g.17026G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000673918.2:c.4929G>A	ENSP00000501283.1:p.Met1643Ile
ENST00000674114.2:c.2536G>A	ENSP00000501039.2:n.2536G>A
ENST00000684977.1:c.213G>A	ENSP00000509384.1:p.Met71Ile
ENST00000685168.1:c.421G>A
ENST00000689544.1:n.148G>A
ENST00000691421.1:c.216G>A	ENSP00000508674.1:p.Met72Ile
ENST00000691855.1:c.4537G>A
ENST00000692961.1:c.4995G>A	ENSP00000509289.1:p.Met1665Ile
ENST00000420124.4:c.4995G>A MANE Select	ENSP00000398837.2:p.Met1665Ile
ENST00000673918.1:c.4929G>A	ENSP00000501283.1:p.Met1643Ile
ENST00000674114.1:c.2317G>A
ENST00000420124.2:c.4995G>A	ENSP00000398837.1:p.Met1665Ile
NM_014727.2:c.4995G>A	NP_055542.1:p.Met1665Ile
XM_011527561.1:c.4929G>A	XP_011525863.1:p.Met1643Ile
XM_011527562.1:c.4995G>A	XP_011525864.1:p.Met1665Ile
XM_011527563.1:c.4719G>A	XP_011525865.1:p.Met1573Ile
XM_011527561.2:c.4431G>A	XP_011525863.2:p.Met1477Ile
XM_011527562.2:c.4995G>A	XP_011525864.1:p.Met1665Ile
XM_017027544.1:c.4995G>A	XP_016883033.1:p.Met1665Ile
XM_017027545.1:c.4431G>A	XP_016883034.1:p.Met1477Ile
XM_017027546.1:c.1959G>A	XP_016883035.1:p.Met653Ile
NM_014727.3:c.4995G>A MANE Select	NP_055542.1:p.Met1665Ile