Canonical Allele Identifier: CA382802679

Gene: KMT2A

Linked Data

• dbSNP Id: rs2134385234
• MyVariant Identifiers: chr11:g.118373290C>G (hg19) ; chr11:g.118502575C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118502575C>G , CM000673.2:g.118502575C>G	GRCh38
NC_000011.9:g.118373290C>G , CM000673.1:g.118373290C>G	GRCh37
NC_000011.8:g.117878500C>G	NCBI36
NG_027813.1:g.71086C>G , LRG_613:g.71086C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.6782C>G	ENSP00000432391.3:p.Ser2261Cys
ENST00000710560.1:c.6773C>G	ENSP00000518343.1:p.Ser2258Cys
ENST00000649878.2:c.722C>G	ENSP00000497891.2:p.Ser241Cys
ENST00000685397.1:c.722C>G	ENSP00000509586.1:p.Ser241Cys
ENST00000686370.1:c.722C>G	ENSP00000509179.1:p.Ser241Cys
ENST00000689424.1:c.980C>G	ENSP00000509852.1:p.Ser327Cys
ENST00000691053.1:c.6755C>G	ENSP00000509168.1:p.Ser2252Cys
ENST00000389506.10:c.6674C>G	ENSP00000374157.5:p.Ser2225Cys
ENST00000528278.2:n.6025C>G
ENST00000534358.8:c.6683C>G MANE Select	ENSP00000436786.2:p.Ser2228Cys
ENST00000649699.1:c.6560C>G	ENSP00000496927.1:p.Ser2187Cys
ENST00000389506.9:c.6674C>G	ENSP00000374157.5:p.Ser2225Cys
ENST00000528278.1:n.810C>G
ENST00000534358.5:c.6683C>G	ENSP00000436786.1:p.Ser2228Cys
NM_001197104.1:c.6683C>G , LRG_613t1:c.6683C>G	NP_001184033.1:p.Ser2228Cys
NM_005933.3:c.6674C>G	NP_005924.2:p.Ser2225Cys
XM_006718839.2:c.4166C>G	XP_006718902.2:p.Ser1389Cys
XM_011542829.1:c.6782C>G	XP_011541131.1:p.Ser2261Cys
XM_011542830.1:c.6779C>G	XP_011541132.1:p.Ser2260Cys
XM_011542831.1:c.6773C>G	XP_011541133.1:p.Ser2258Cys
XM_011542832.1:c.4589C>G	XP_011541134.1:p.Ser1530Cys
XM_011542833.1:c.4265C>G	XP_011541135.1:p.Ser1422Cys
XM_006718839.3:c.4166C>G	XP_006718902.2:p.Ser1389Cys
XM_011542829.2:c.6782C>G	XP_011541131.1:p.Ser2261Cys
XM_011542830.2:c.6779C>G	XP_011541132.1:p.Ser2260Cys
XM_011542831.2:c.6773C>G	XP_011541133.1:p.Ser2258Cys
XM_011542833.2:c.4265C>G	XP_011541135.1:p.Ser1422Cys
NM_001197104.2:c.6683C>G MANE Select	NP_001184033.1:p.Ser2228Cys
NM_005933.4:c.6674C>G	NP_005924.2:p.Ser2225Cys