Canonical Allele Identifier: CA382802629

Gene: KMT2A

Linked Data

• ClinVar Variation Id: 2129068
• ClinVar RCV Id: RCV003057891
• MyVariant Identifiers: chr11:g.118373279G>C (hg19) ; chr11:g.118502564G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118502564G>C , CM000673.2:g.118502564G>C	GRCh38
NC_000011.9:g.118373279G>C , CM000673.1:g.118373279G>C	GRCh37
NC_000011.8:g.117878489G>C	NCBI36
NG_027813.1:g.71075G>C , LRG_613:g.71075G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000531904.7:c.6771G>C	ENSP00000432391.3:p.Arg2257Ser
ENST00000710560.1:c.6762G>C	ENSP00000518343.1:p.Arg2254Ser
ENST00000649878.2:c.711G>C	ENSP00000497891.2:p.Arg237Ser
ENST00000685397.1:c.711G>C	ENSP00000509586.1:p.Arg237Ser
ENST00000686370.1:c.711G>C	ENSP00000509179.1:p.Arg237Ser
ENST00000689424.1:c.969G>C	ENSP00000509852.1:p.Arg323Ser
ENST00000691053.1:c.6744G>C	ENSP00000509168.1:p.Arg2248Ser
ENST00000389506.10:c.6663G>C	ENSP00000374157.5:p.Arg2221Ser
ENST00000528278.2:n.6014G>C
ENST00000534358.8:c.6672G>C MANE Select	ENSP00000436786.2:p.Arg2224Ser
ENST00000649699.1:c.6549G>C	ENSP00000496927.1:p.Arg2183Ser
ENST00000389506.9:c.6663G>C	ENSP00000374157.5:p.Arg2221Ser
ENST00000528278.1:n.799G>C
ENST00000534358.5:c.6672G>C	ENSP00000436786.1:p.Arg2224Ser
NM_001197104.1:c.6672G>C , LRG_613t1:c.6672G>C	NP_001184033.1:p.Arg2224Ser
NM_005933.3:c.6663G>C	NP_005924.2:p.Arg2221Ser
XM_006718839.2:c.4155G>C	XP_006718902.2:p.Arg1385Ser
XM_011542829.1:c.6771G>C	XP_011541131.1:p.Arg2257Ser
XM_011542830.1:c.6768G>C	XP_011541132.1:p.Arg2256Ser
XM_011542831.1:c.6762G>C	XP_011541133.1:p.Arg2254Ser
XM_011542832.1:c.4578G>C	XP_011541134.1:p.Arg1526Ser
XM_011542833.1:c.4254G>C	XP_011541135.1:p.Arg1418Ser
XM_006718839.3:c.4155G>C	XP_006718902.2:p.Arg1385Ser
XM_011542829.2:c.6771G>C	XP_011541131.1:p.Arg2257Ser
XM_011542830.2:c.6768G>C	XP_011541132.1:p.Arg2256Ser
XM_011542831.2:c.6762G>C	XP_011541133.1:p.Arg2254Ser
XM_011542833.2:c.4254G>C	XP_011541135.1:p.Arg1418Ser
NM_001197104.2:c.6672G>C MANE Select	NP_001184033.1:p.Arg2224Ser
NM_005933.4:c.6663G>C	NP_005924.2:p.Arg2221Ser