Canonical Allele Identifier: CA382804892

Gene: KMT2A

Linked Data

• ClinVar Variation Id: 3115971
• ClinVar RCV Id: RCV004409767
• MyVariant Identifiers: chr11:g.118373874T>A (hg19) ; chr11:g.118503159T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503159T>A , CM000673.2:g.118503159T>A	GRCh38
NC_000011.9:g.118373874T>A , CM000673.1:g.118373874T>A	GRCh37
NC_000011.8:g.117879084T>A	NCBI36
NG_027813.1:g.71670T>A , LRG_613:g.71670T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.7366T>A	ENSP00000432391.3:p.Ser2456Thr
ENST00000710560.1:c.7357T>A	ENSP00000518343.1:p.Ser2453Thr
ENST00000649878.2:c.1306T>A	ENSP00000497891.2:p.Ser436Thr
ENST00000685397.1:c.1306T>A	ENSP00000509586.1:p.Ser436Thr
ENST00000686370.1:c.1306T>A	ENSP00000509179.1:p.Ser436Thr
ENST00000689424.1:c.1564T>A	ENSP00000509852.1:p.Ser522Thr
ENST00000691053.1:c.7339T>A	ENSP00000509168.1:p.Ser2447Thr
ENST00000389506.10:c.7258T>A	ENSP00000374157.5:p.Ser2420Thr
ENST00000528278.2:n.6609T>A
ENST00000534358.8:c.7267T>A MANE Select	ENSP00000436786.2:p.Ser2423Thr
ENST00000649699.1:c.7144T>A	ENSP00000496927.1:p.Ser2382Thr
ENST00000389506.9:c.7258T>A	ENSP00000374157.5:p.Ser2420Thr
ENST00000528278.1:n.1394T>A
ENST00000534358.5:c.7267T>A	ENSP00000436786.1:p.Ser2423Thr
NM_001197104.1:c.7267T>A , LRG_613t1:c.7267T>A	NP_001184033.1:p.Ser2423Thr
NM_005933.3:c.7258T>A	NP_005924.2:p.Ser2420Thr
XM_006718839.2:c.4750T>A	XP_006718902.2:p.Ser1584Thr
XM_011542829.1:c.7366T>A	XP_011541131.1:p.Ser2456Thr
XM_011542830.1:c.7363T>A	XP_011541132.1:p.Ser2455Thr
XM_011542831.1:c.7357T>A	XP_011541133.1:p.Ser2453Thr
XM_011542832.1:c.5173T>A	XP_011541134.1:p.Ser1725Thr
XM_011542833.1:c.4849T>A	XP_011541135.1:p.Ser1617Thr
XM_006718839.3:c.4750T>A	XP_006718902.2:p.Ser1584Thr
XM_011542829.2:c.7366T>A	XP_011541131.1:p.Ser2456Thr
XM_011542830.2:c.7363T>A	XP_011541132.1:p.Ser2455Thr
XM_011542831.2:c.7357T>A	XP_011541133.1:p.Ser2453Thr
XM_011542833.2:c.4849T>A	XP_011541135.1:p.Ser1617Thr
NM_001197104.2:c.7267T>A MANE Select	NP_001184033.1:p.Ser2423Thr
NM_005933.4:c.7258T>A	NP_005924.2:p.Ser2420Thr