Canonical Allele Identifier: CA382806809

Gene: KMT2A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118471731C>A , CM000673.2:g.118471731C>A	GRCh38
NC_000011.9:g.118342446C>A , CM000673.1:g.118342446C>A	GRCh37
NC_000011.8:g.117847656C>A	NCBI36
NG_027813.1:g.40242C>A , LRG_613:g.40242C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001197104.2:c.572C>A MANE Select	NP_001184033.1:p.Ser191Ter
ENST00000534358.8:c.572C>A MANE Select	ENSP00000436786.2:p.Ser191Ter
NM_001197104.1:c.572C>A , LRG_613t1:c.572C>A	NP_001184033.1:p.Ser191Ter
NM_005933.3:c.572C>A	NP_005924.2:p.Ser191Ter
NM_005933.4:c.572C>A	NP_005924.2:p.Ser191Ter
ENST00000389506.10:c.572C>A	ENSP00000374157.5:p.Ser191Ter
ENST00000389506.9:c.572C>A	ENSP00000374157.5:p.Ser191Ter
ENST00000527869.6:c.353-2448C>A	ENSP00000432652.2:n.353-2448C>A
ENST00000527869.7:c.602-2448C>A	ENSP00000432652.3:n.602-2448C>A
ENST00000531904.6:c.671C>A	ENSP00000432391.2:p.Ser224Ter
ENST00000531904.7:c.671C>A	ENSP00000432391.3:p.Ser224Ter
ENST00000533790.1:c.254-2448C>A	ENSP00000436700.1:n.254-2448C>A
ENST00000533790.2:c.272-2448C>A	ENSP00000436700.2:n.272-2448C>A
ENST00000533790.3:c.503-2448C>A	ENSP00000436700.3:n.503-2448C>A
ENST00000534358.5:c.572C>A	ENSP00000436786.1:p.Ser191Ter
ENST00000648261.1:c.-659C>A	ENSP00000498126.1:n.-659C>A
ENST00000648910.1:n.1364C>A
ENST00000649690.1:c.158C>A	ENSP00000497372.1:p.Ser53Ter
ENST00000649690.2:c.572C>A	ENSP00000497372.2:p.Ser191Ter
ENST00000649699.1:c.572C>A	ENSP00000496927.1:p.Ser191Ter
ENST00000691053.1:c.572C>A	ENSP00000509168.1:p.Ser191Ter
ENST00000710560.1:c.671C>A	ENSP00000518343.1:p.Ser224Ter
XM_006718839.2:c.503-2448C>A	XP_006718902.2:n.503-2448C>A
XM_006718839.3:c.503-2448C>A	XP_006718902.2:n.503-2448C>A
XM_011542829.1:c.671C>A	XP_011541131.1:p.Ser224Ter
XM_011542829.2:c.671C>A	XP_011541131.1:p.Ser224Ter
XM_011542830.1:c.671C>A	XP_011541132.1:p.Ser224Ter
XM_011542830.2:c.671C>A	XP_011541132.1:p.Ser224Ter
XM_011542831.1:c.671C>A	XP_011541133.1:p.Ser224Ter
XM_011542831.2:c.671C>A	XP_011541133.1:p.Ser224Ter
XM_011542832.1:c.671C>A	XP_011541134.1:p.Ser224Ter
XM_011542833.1:c.602-2448C>A	XP_011541135.1:n.602-2448C>A
XM_011542833.2:c.602-2448C>A	XP_011541135.1:n.602-2448C>A