Canonical Allele Identifier: CA382797336

Gene: KMT2A

Linked Data

• ClinVar Variation Id: 429407
• ClinVar RCV Id: RCV000492805
• dbSNP Id: rs1131691365
• MyVariant Identifiers: chr11:g.118307366G>C (hg19) ; chr11:g.118436651G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118436651G>C , CM000673.2:g.118436651G>C	GRCh38
NC_000011.9:g.118307366G>C , CM000673.1:g.118307366G>C	GRCh37
NC_000011.8:g.117812576G>C	NCBI36
NG_027813.1:g.5162G>C , LRG_613:g.5162G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000531904.7:c.139G>C	ENSP00000432391.3:p.Gly47Arg
ENST00000710560.1:c.139G>C	ENSP00000518343.1:p.Gly47Arg
ENST00000527869.7:c.139G>C	ENSP00000432652.3:p.Gly47Arg
ENST00000529852.3:c.139G>C	ENSP00000436564.2:p.Gly47Arg
ENST00000532204.6:c.139G>C	ENSP00000434618.2:p.Gly47Arg
ENST00000533790.3:c.139G>C	ENSP00000436700.3:p.Gly47Arg
ENST00000649666.2:c.139G>C	ENSP00000497918.2:p.Gly47Arg
ENST00000649690.2:c.139G>C	ENSP00000497372.2:p.Gly47Arg
ENST00000691053.1:c.139G>C	ENSP00000509168.1:p.Gly47Arg
ENST00000389506.10:c.139G>C	ENSP00000374157.5:p.Gly47Arg
ENST00000534358.8:c.139G>C MANE Select	ENSP00000436786.2:p.Gly47Arg
ENST00000648261.1:c.-798-32124G>C	ENSP00000498126.1:n.-798-32124G>C
ENST00000649464.1:c.214-10974G>C	ENSP00000497966.1:n.214-10974G>C
ENST00000649699.1:c.139G>C	ENSP00000496927.1:p.Gly47Arg
ENST00000389506.9:c.139G>C	ENSP00000374157.5:p.Gly47Arg
ENST00000531904.6:c.139G>C	ENSP00000432391.2:p.Gly47Arg
ENST00000534358.5:c.139G>C	ENSP00000436786.1:p.Gly47Arg
NM_001197104.1:c.139G>C , LRG_613t1:c.139G>C	NP_001184033.1:p.Gly47Arg
NM_005933.3:c.139G>C	NP_005924.2:p.Gly47Arg
XM_006718839.2:c.139G>C	XP_006718902.2:p.Gly47Arg
XM_011542829.1:c.139G>C	XP_011541131.1:p.Gly47Arg
XM_011542830.1:c.139G>C	XP_011541132.1:p.Gly47Arg
XM_011542831.1:c.139G>C	XP_011541133.1:p.Gly47Arg
XM_011542832.1:c.139G>C	XP_011541134.1:p.Gly47Arg
XM_011542833.1:c.139G>C	XP_011541135.1:p.Gly47Arg
XM_006718839.3:c.139G>C	XP_006718902.2:p.Gly47Arg
XM_011542829.2:c.139G>C	XP_011541131.1:p.Gly47Arg
XM_011542830.2:c.139G>C	XP_011541132.1:p.Gly47Arg
XM_011542831.2:c.139G>C	XP_011541133.1:p.Gly47Arg
XM_011542833.2:c.139G>C	XP_011541135.1:p.Gly47Arg
NM_001197104.2:c.139G>C MANE Select	NP_001184033.1:p.Gly47Arg
NM_005933.4:c.139G>C	NP_005924.2:p.Gly47Arg