Canonical Allele Identifier: CA382804826

Gene: KMT2A

Linked Data

• MyVariant Identifiers: chr11:g.118373847T>G (hg19) ; chr11:g.118503132T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503132T>G , CM000673.2:g.118503132T>G	GRCh38
NC_000011.9:g.118373847T>G , CM000673.1:g.118373847T>G	GRCh37
NC_000011.8:g.117879057T>G	NCBI36
NG_027813.1:g.71643T>G , LRG_613:g.71643T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.7339T>G	ENSP00000432391.3:p.Ser2447Ala
ENST00000710560.1:c.7330T>G	ENSP00000518343.1:p.Ser2444Ala
ENST00000649878.2:c.1279T>G	ENSP00000497891.2:p.Ser427Ala
ENST00000685397.1:c.1279T>G	ENSP00000509586.1:p.Ser427Ala
ENST00000686370.1:c.1279T>G	ENSP00000509179.1:p.Ser427Ala
ENST00000689424.1:c.1537T>G	ENSP00000509852.1:p.Ser513Ala
ENST00000691053.1:c.7312T>G	ENSP00000509168.1:p.Ser2438Ala
ENST00000389506.10:c.7231T>G	ENSP00000374157.5:p.Ser2411Ala
ENST00000528278.2:n.6582T>G
ENST00000534358.8:c.7240T>G MANE Select	ENSP00000436786.2:p.Ser2414Ala
ENST00000649699.1:c.7117T>G	ENSP00000496927.1:p.Ser2373Ala
ENST00000389506.9:c.7231T>G	ENSP00000374157.5:p.Ser2411Ala
ENST00000528278.1:n.1367T>G
ENST00000534358.5:c.7240T>G	ENSP00000436786.1:p.Ser2414Ala
NM_001197104.1:c.7240T>G , LRG_613t1:c.7240T>G	NP_001184033.1:p.Ser2414Ala
NM_005933.3:c.7231T>G	NP_005924.2:p.Ser2411Ala
XM_006718839.2:c.4723T>G	XP_006718902.2:p.Ser1575Ala
XM_011542829.1:c.7339T>G	XP_011541131.1:p.Ser2447Ala
XM_011542830.1:c.7336T>G	XP_011541132.1:p.Ser2446Ala
XM_011542831.1:c.7330T>G	XP_011541133.1:p.Ser2444Ala
XM_011542832.1:c.5146T>G	XP_011541134.1:p.Ser1716Ala
XM_011542833.1:c.4822T>G	XP_011541135.1:p.Ser1608Ala
XM_006718839.3:c.4723T>G	XP_006718902.2:p.Ser1575Ala
XM_011542829.2:c.7339T>G	XP_011541131.1:p.Ser2447Ala
XM_011542830.2:c.7336T>G	XP_011541132.1:p.Ser2446Ala
XM_011542831.2:c.7330T>G	XP_011541133.1:p.Ser2444Ala
XM_011542833.2:c.4822T>G	XP_011541135.1:p.Ser1608Ala
NM_001197104.2:c.7240T>G MANE Select	NP_001184033.1:p.Ser2414Ala
NM_005933.4:c.7231T>G	NP_005924.2:p.Ser2411Ala