Canonical Allele Identifier: CA382805648

Gene: KMT2A

Linked Data

• MyVariant Identifiers: chr11:g.118374063T>A (hg19) ; chr11:g.118503348T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503348T>A , CM000673.2:g.118503348T>A	GRCh38
NC_000011.9:g.118374063T>A , CM000673.1:g.118374063T>A	GRCh37
NC_000011.8:g.117879273T>A	NCBI36
NG_027813.1:g.71859T>A , LRG_613:g.71859T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.7555T>A	ENSP00000432391.3:p.Ser2519Thr
ENST00000710560.1:c.7546T>A	ENSP00000518343.1:p.Ser2516Thr
ENST00000649878.2:c.1495T>A	ENSP00000497891.2:p.Ser499Thr
ENST00000685397.1:c.1495T>A	ENSP00000509586.1:p.Ser499Thr
ENST00000686370.1:c.1495T>A	ENSP00000509179.1:p.Ser499Thr
ENST00000689424.1:c.1753T>A	ENSP00000509852.1:p.Ser585Thr
ENST00000691053.1:c.7528T>A	ENSP00000509168.1:p.Ser2510Thr
ENST00000389506.10:c.7447T>A	ENSP00000374157.5:p.Ser2483Thr
ENST00000528278.2:n.6798T>A
ENST00000534358.8:c.7456T>A MANE Select	ENSP00000436786.2:p.Ser2486Thr
ENST00000649699.1:c.7333T>A	ENSP00000496927.1:p.Ser2445Thr
ENST00000389506.9:c.7447T>A	ENSP00000374157.5:p.Ser2483Thr
ENST00000528278.1:n.1583T>A
ENST00000534358.5:c.7456T>A	ENSP00000436786.1:p.Ser2486Thr
NM_001197104.1:c.7456T>A , LRG_613t1:c.7456T>A	NP_001184033.1:p.Ser2486Thr
NM_005933.3:c.7447T>A	NP_005924.2:p.Ser2483Thr
XM_006718839.2:c.4939T>A	XP_006718902.2:p.Ser1647Thr
XM_011542829.1:c.7555T>A	XP_011541131.1:p.Ser2519Thr
XM_011542830.1:c.7552T>A	XP_011541132.1:p.Ser2518Thr
XM_011542831.1:c.7546T>A	XP_011541133.1:p.Ser2516Thr
XM_011542832.1:c.5362T>A	XP_011541134.1:p.Ser1788Thr
XM_011542833.1:c.5038T>A	XP_011541135.1:p.Ser1680Thr
XM_006718839.3:c.4939T>A	XP_006718902.2:p.Ser1647Thr
XM_011542829.2:c.7555T>A	XP_011541131.1:p.Ser2519Thr
XM_011542830.2:c.7552T>A	XP_011541132.1:p.Ser2518Thr
XM_011542831.2:c.7546T>A	XP_011541133.1:p.Ser2516Thr
XM_011542833.2:c.5038T>A	XP_011541135.1:p.Ser1680Thr
NM_001197104.2:c.7456T>A MANE Select	NP_001184033.1:p.Ser2486Thr
NM_005933.4:c.7447T>A	NP_005924.2:p.Ser2483Thr