Canonical Allele Identifier: CA382825054

Gene: KMT2A

Linked Data

• ClinVar Variation Id: 522805
• ClinVar RCV Id: RCV000625973
• dbSNP Id: rs1555038111
• MyVariant Identifiers: chr11:g.118348868T>G (hg19) ; chr11:g.118478153T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118478153T>G , CM000673.2:g.118478153T>G	GRCh38
NC_000011.9:g.118348868T>G , CM000673.1:g.118348868T>G	GRCh37
NC_000011.8:g.117854078T>G	NCBI36
NG_027813.1:g.46664T>G , LRG_613:g.46664T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.3620T>G	ENSP00000432391.3:p.Leu1207Ter
ENST00000710560.1:c.3620T>G	ENSP00000518343.1:p.Leu1207Ter
ENST00000527869.7:c.1103T>G	ENSP00000432652.3:p.Leu368Ter
ENST00000533790.3:c.1004T>G	ENSP00000436700.3:p.Leu335Ter
ENST00000649690.2:c.1328T>G	ENSP00000497372.2:p.Leu443Ter
ENST00000685719.1:c.502T>G
ENST00000691053.1:c.3521T>G	ENSP00000509168.1:p.Leu1174Ter
ENST00000389506.10:c.3521T>G	ENSP00000374157.5:p.Leu1174Ter
ENST00000533790.2:c.773T>G	ENSP00000436700.2:p.Leu258Ter
ENST00000534358.8:c.3521T>G MANE Select	ENSP00000436786.2:p.Leu1174Ter
ENST00000648261.1:c.2291T>G	ENSP00000498126.1:p.Leu764Ter
ENST00000649699.1:c.3521T>G	ENSP00000496927.1:p.Leu1174Ter
ENST00000389506.9:c.3521T>G	ENSP00000374157.5:p.Leu1174Ter
ENST00000531904.6:c.3620T>G	ENSP00000432391.2:p.Leu1207Ter
ENST00000533790.1:c.755T>G	ENSP00000436700.1:p.Leu252Ter
ENST00000534358.5:c.3521T>G	ENSP00000436786.1:p.Leu1174Ter
NM_001197104.1:c.3521T>G , LRG_613t1:c.3521T>G	NP_001184033.1:p.Leu1174Ter
NM_005933.3:c.3521T>G	NP_005924.2:p.Leu1174Ter
XM_006718839.2:c.1004T>G	XP_006718902.2:p.Leu335Ter
XM_011542829.1:c.3620T>G	XP_011541131.1:p.Leu1207Ter
XM_011542830.1:c.3620T>G	XP_011541132.1:p.Leu1207Ter
XM_011542831.1:c.3620T>G	XP_011541133.1:p.Leu1207Ter
XM_011542832.1:c.1427T>G	XP_011541134.1:p.Leu476Ter
XM_011542833.1:c.1103T>G	XP_011541135.1:p.Leu368Ter
XM_006718839.3:c.1004T>G	XP_006718902.2:p.Leu335Ter
XM_011542829.2:c.3620T>G	XP_011541131.1:p.Leu1207Ter
XM_011542830.2:c.3620T>G	XP_011541132.1:p.Leu1207Ter
XM_011542831.2:c.3620T>G	XP_011541133.1:p.Leu1207Ter
XM_011542833.2:c.1103T>G	XP_011541135.1:p.Leu368Ter
NM_001197104.2:c.3521T>G MANE Select	NP_001184033.1:p.Leu1174Ter
NM_005933.4:c.3521T>G	NP_005924.2:p.Leu1174Ter