Canonical Allele Identifier: CA405418731

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36220889C>G (hg19) ; chr19:g.35729988C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35729988C>G , CM000681.2:g.35729988C>G	GRCh38
NC_000019.9:g.36220889C>G , CM000681.1:g.36220889C>G	GRCh37
NC_000019.8:g.40912729C>G	NCBI36
NG_052906.1:g.16970C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673918.2:c.4873C>G	ENSP00000501283.1:p.Pro1625Ala
ENST00000674114.2:c.2480C>G	ENSP00000501039.2:n.2480C>G
ENST00000684977.1:c.157C>G	ENSP00000509384.1:p.Pro53Ala
ENST00000685168.1:c.365C>G
ENST00000689544.1:n.92C>G
ENST00000691421.1:c.160C>G	ENSP00000508674.1:p.Pro54Ala
ENST00000691855.1:c.4481C>G
ENST00000692961.1:c.4939C>G	ENSP00000509289.1:p.Pro1647Ala
ENST00000420124.4:c.4939C>G MANE Select	ENSP00000398837.2:p.Pro1647Ala
ENST00000673918.1:c.4873C>G	ENSP00000501283.1:p.Pro1625Ala
ENST00000674114.1:c.2261C>G
ENST00000420124.2:c.4939C>G	ENSP00000398837.1:p.Pro1647Ala
NM_014727.2:c.4939C>G	NP_055542.1:p.Pro1647Ala
XM_011527561.1:c.4873C>G	XP_011525863.1:p.Pro1625Ala
XM_011527562.1:c.4939C>G	XP_011525864.1:p.Pro1647Ala
XM_011527563.1:c.4663C>G	XP_011525865.1:p.Pro1555Ala
XM_011527561.2:c.4375C>G	XP_011525863.2:p.Pro1459Ala
XM_011527562.2:c.4939C>G	XP_011525864.1:p.Pro1647Ala
XM_017027544.1:c.4939C>G	XP_016883033.1:p.Pro1647Ala
XM_017027545.1:c.4375C>G	XP_016883034.1:p.Pro1459Ala
XM_017027546.1:c.1903C>G	XP_016883035.1:p.Pro635Ala
NM_014727.3:c.4939C>G MANE Select	NP_055542.1:p.Pro1647Ala