Canonical Allele Identifier: CA333602

Gene: KMT2A

Linked Data

• ClinVar Variation Id: 180201
• ClinVar RCV Id: RCV000157053 ; RCV000599517
• dbSNP Id: rs727503777
• COSMIC: COSM3443946 ; COSM3443947
• MyVariant Identifiers: chr11:g.118344107C>T (hg19) ; chr11:g.118473392C>T (hg38)
• PubMed: PMID:25574841

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118473392C>T , CM000673.2:g.118473392C>T	GRCh38
NC_000011.9:g.118344107C>T , CM000673.1:g.118344107C>T	GRCh37
NC_000011.8:g.117849317C>T	NCBI36
NG_027813.1:g.41903C>T , LRG_613:g.41903C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.2332C>T	ENSP00000432391.3:p.Arg778Ter
ENST00000710560.1:c.2332C>T	ENSP00000518343.1:p.Arg778Ter
ENST00000527869.7:c.602-787C>T	ENSP00000432652.3:n.602-787C>T
ENST00000533790.3:c.503-787C>T	ENSP00000436700.3:n.503-787C>T
ENST00000649690.2:c.827-787C>T	ENSP00000497372.2:n.827-787C>T
ENST00000691053.1:c.2233C>T	ENSP00000509168.1:p.Arg745Ter
ENST00000389506.10:c.2233C>T	ENSP00000374157.5:p.Arg745Ter
ENST00000533790.2:c.272-787C>T	ENSP00000436700.2:n.272-787C>T
ENST00000534358.8:c.2233C>T MANE Select	ENSP00000436786.2:p.Arg745Ter
ENST00000648261.1:c.1003C>T	ENSP00000498126.1:p.Arg335Ter
ENST00000649690.1:c.413-787C>T	ENSP00000497372.1:n.413-787C>T
ENST00000649699.1:c.2233C>T	ENSP00000496927.1:p.Arg745Ter
ENST00000389506.9:c.2233C>T	ENSP00000374157.5:p.Arg745Ter
ENST00000527869.6:c.353-787C>T	ENSP00000432652.2:n.353-787C>T
ENST00000531904.6:c.2332C>T	ENSP00000432391.2:p.Arg778Ter
ENST00000533790.1:c.254-787C>T	ENSP00000436700.1:n.254-787C>T
ENST00000534358.5:c.2233C>T	ENSP00000436786.1:p.Arg745Ter
NM_001197104.1:c.2233C>T , LRG_613t1:c.2233C>T	NP_001184033.1:p.Arg745Ter
NM_005933.3:c.2233C>T	NP_005924.2:p.Arg745Ter
XM_006718839.2:c.503-787C>T	XP_006718902.2:n.503-787C>T
XM_011542829.1:c.2332C>T	XP_011541131.1:p.Arg778Ter
XM_011542830.1:c.2332C>T	XP_011541132.1:p.Arg778Ter
XM_011542831.1:c.2332C>T	XP_011541133.1:p.Arg778Ter
XM_011542832.1:c.926-787C>T	XP_011541134.1:n.926-787C>T
XM_011542833.1:c.602-787C>T	XP_011541135.1:n.602-787C>T
XM_006718839.3:c.503-787C>T	XP_006718902.2:n.503-787C>T
XM_011542829.2:c.2332C>T	XP_011541131.1:p.Arg778Ter
XM_011542830.2:c.2332C>T	XP_011541132.1:p.Arg778Ter
XM_011542831.2:c.2332C>T	XP_011541133.1:p.Arg778Ter
XM_011542833.2:c.602-787C>T	XP_011541135.1:n.602-787C>T
NM_001197104.2:c.2233C>T MANE Select	NP_001184033.1:p.Arg745Ter
NM_005933.4:c.2233C>T	NP_005924.2:p.Arg745Ter