Canonical Allele Identifier: CA6304377

Gene: KMT2A

Linked Data

• ClinVar Variation Id: 1645724
• ClinVar RCV Id: RCV002148661 ; RCV003895971
• dbSNP Id: rs781865040
• ExAC: 11:118373847 T / A
• gnomAD v2: 11-118373847-T-A
• gnomAD v3: 11-118503132-T-A
• gnomAD v4: 11-118503132-T-A
• MyVariant Identifiers: chr11:g.118373847T>A (hg19) ; chr11:g.118503132T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.7339T>A	ENSP00000432391.3:p.Ser2447Thr
ENST00000710560.1:c.7330T>A	ENSP00000518343.1:p.Ser2444Thr
ENST00000649878.2:c.1279T>A	ENSP00000497891.2:p.Ser427Thr
ENST00000685397.1:c.1279T>A	ENSP00000509586.1:p.Ser427Thr
ENST00000686370.1:c.1279T>A	ENSP00000509179.1:p.Ser427Thr
ENST00000689424.1:c.1537T>A	ENSP00000509852.1:p.Ser513Thr
ENST00000691053.1:c.7312T>A	ENSP00000509168.1:p.Ser2438Thr
ENST00000389506.10:c.7231T>A	ENSP00000374157.5:p.Ser2411Thr
ENST00000528278.2:n.6582T>A
ENST00000534358.8:c.7240T>A MANE Select	ENSP00000436786.2:p.Ser2414Thr
ENST00000649699.1:c.7117T>A	ENSP00000496927.1:p.Ser2373Thr
ENST00000389506.9:c.7231T>A	ENSP00000374157.5:p.Ser2411Thr
ENST00000528278.1:n.1367T>A
ENST00000534358.5:c.7240T>A	ENSP00000436786.1:p.Ser2414Thr
NM_001197104.1:c.7240T>A , LRG_613t1:c.7240T>A	NP_001184033.1:p.Ser2414Thr
NM_005933.3:c.7231T>A	NP_005924.2:p.Ser2411Thr
XM_006718839.2:c.4723T>A	XP_006718902.2:p.Ser1575Thr
XM_011542829.1:c.7339T>A	XP_011541131.1:p.Ser2447Thr
XM_011542830.1:c.7336T>A	XP_011541132.1:p.Ser2446Thr
XM_011542831.1:c.7330T>A	XP_011541133.1:p.Ser2444Thr
XM_011542832.1:c.5146T>A	XP_011541134.1:p.Ser1716Thr
XM_011542833.1:c.4822T>A	XP_011541135.1:p.Ser1608Thr
XM_006718839.3:c.4723T>A	XP_006718902.2:p.Ser1575Thr
XM_011542829.2:c.7339T>A	XP_011541131.1:p.Ser2447Thr
XM_011542830.2:c.7336T>A	XP_011541132.1:p.Ser2446Thr
XM_011542831.2:c.7330T>A	XP_011541133.1:p.Ser2444Thr
XM_011542833.2:c.4822T>A	XP_011541135.1:p.Ser1608Thr
NM_001197104.2:c.7240T>A MANE Select	NP_001184033.1:p.Ser2414Thr
NM_005933.4:c.7231T>A	NP_005924.2:p.Ser2411Thr