Canonical Allele Identifier: CA405418800

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36220904G>A (hg19) ; chr19:g.35730003G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35730003G>A , CM000681.2:g.35730003G>A	GRCh38
NC_000019.9:g.36220904G>A , CM000681.1:g.36220904G>A	GRCh37
NC_000019.8:g.40912744G>A	NCBI36
NG_052906.1:g.16985G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673918.2:c.4888G>A	ENSP00000501283.1:p.Gly1630Ser
ENST00000674114.2:c.2495G>A	ENSP00000501039.2:n.2495G>A
ENST00000684977.1:c.172G>A	ENSP00000509384.1:p.Gly58Ser
ENST00000685168.1:c.380G>A
ENST00000689544.1:n.107G>A
ENST00000691421.1:c.175G>A	ENSP00000508674.1:p.Gly59Ser
ENST00000691855.1:c.4496G>A
ENST00000692961.1:c.4954G>A	ENSP00000509289.1:p.Gly1652Ser
ENST00000420124.4:c.4954G>A MANE Select	ENSP00000398837.2:p.Gly1652Ser
ENST00000673918.1:c.4888G>A	ENSP00000501283.1:p.Gly1630Ser
ENST00000674114.1:c.2276G>A
ENST00000420124.2:c.4954G>A	ENSP00000398837.1:p.Gly1652Ser
NM_014727.2:c.4954G>A	NP_055542.1:p.Gly1652Ser
XM_011527561.1:c.4888G>A	XP_011525863.1:p.Gly1630Ser
XM_011527562.1:c.4954G>A	XP_011525864.1:p.Gly1652Ser
XM_011527563.1:c.4678G>A	XP_011525865.1:p.Gly1560Ser
XM_011527561.2:c.4390G>A	XP_011525863.2:p.Gly1464Ser
XM_011527562.2:c.4954G>A	XP_011525864.1:p.Gly1652Ser
XM_017027544.1:c.4954G>A	XP_016883033.1:p.Gly1652Ser
XM_017027545.1:c.4390G>A	XP_016883034.1:p.Gly1464Ser
XM_017027546.1:c.1918G>A	XP_016883035.1:p.Gly640Ser
NM_014727.3:c.4954G>A MANE Select	NP_055542.1:p.Gly1652Ser