Canonical Allele Identifier: CA405417992

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35729223C>T , CM000681.2:g.35729223C>T	GRCh38
NC_000019.9:g.36220124C>T , CM000681.1:g.36220124C>T	GRCh37
NC_000019.8:g.40911964C>T	NCBI36
NG_052906.1:g.16205C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014727.3:c.4844C>T MANE Select	NP_055542.1:p.Ser1615Leu
ENST00000420124.4:c.4844C>T MANE Select	ENSP00000398837.2:p.Ser1615Leu
NM_014727.2:c.4844C>T	NP_055542.1:p.Ser1615Leu
ENST00000420124.2:c.4844C>T	ENSP00000398837.1:p.Ser1615Leu
ENST00000673918.1:c.4778C>T	ENSP00000501283.1:p.Ser1593Leu
ENST00000673918.2:c.4778C>T	ENSP00000501283.1:p.Ser1593Leu
ENST00000674114.1:c.2166C>T
ENST00000674114.2:c.2385C>T	ENSP00000501039.2:n.2385C>T
ENST00000684977.1:c.62C>T	ENSP00000509384.1:p.Ser21Leu
ENST00000685168.1:c.270C>T
ENST00000691421.1:c.65C>T	ENSP00000508674.1:p.Ser22Leu
ENST00000691855.1:c.4386C>T
ENST00000692961.1:c.4844C>T	ENSP00000509289.1:p.Ser1615Leu
XM_011527561.1:c.4778C>T	XP_011525863.1:p.Ser1593Leu
XM_011527561.2:c.4280C>T	XP_011525863.2:p.Ser1427Leu
XM_011527562.1:c.4844C>T	XP_011525864.1:p.Ser1615Leu
XM_011527562.2:c.4844C>T	XP_011525864.1:p.Ser1615Leu
XM_011527563.1:c.4568C>T	XP_011525865.1:p.Ser1523Leu
XM_017027544.1:c.4844C>T	XP_016883033.1:p.Ser1615Leu
XM_017027545.1:c.4280C>T	XP_016883034.1:p.Ser1427Leu
XM_017027546.1:c.1808C>T	XP_016883035.1:p.Ser603Leu