Canonical Allele Identifier: CA382834293

Gene: KMT2A

Linked Data

• MyVariant Identifiers: chr11:g.118361935A>C (hg19) ; chr11:g.118491220A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118491220A>C , CM000673.2:g.118491220A>C	GRCh38
NC_000011.9:g.118361935A>C , CM000673.1:g.118361935A>C	GRCh37
NC_000011.8:g.117867145A>C	NCBI36
NG_027813.1:g.59731A>C , LRG_613:g.59731A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000531904.7:c.4820A>C	ENSP00000432391.3:p.Lys1607Thr
ENST00000710560.1:c.4820A>C	ENSP00000518343.1:p.Lys1607Thr
ENST00000685498.1:c.497A>C	ENSP00000509293.1:p.Lys166Thr
ENST00000691053.1:c.4721A>C	ENSP00000509168.1:p.Lys1574Thr
ENST00000389506.10:c.4721A>C	ENSP00000374157.5:p.Lys1574Thr
ENST00000534358.8:c.4721A>C MANE Select	ENSP00000436786.2:p.Lys1574Thr
ENST00000649699.1:c.4607A>C	ENSP00000496927.1:p.Lys1536Thr
ENST00000389506.9:c.4721A>C	ENSP00000374157.5:p.Lys1574Thr
ENST00000392873.3:c.857A>C	ENSP00000376612.3:p.Lys286Thr
ENST00000534358.5:c.4721A>C	ENSP00000436786.1:p.Lys1574Thr
NM_001197104.1:c.4721A>C , LRG_613t1:c.4721A>C	NP_001184033.1:p.Lys1574Thr
NM_005933.3:c.4721A>C	NP_005924.2:p.Lys1574Thr
XM_006718839.2:c.2204A>C	XP_006718902.2:p.Lys735Thr
XM_011542829.1:c.4820A>C	XP_011541131.1:p.Lys1607Thr
XM_011542830.1:c.4817A>C	XP_011541132.1:p.Lys1606Thr
XM_011542831.1:c.4820A>C	XP_011541133.1:p.Lys1607Thr
XM_011542832.1:c.2627A>C	XP_011541134.1:p.Lys876Thr
XM_011542833.1:c.2303A>C	XP_011541135.1:p.Lys768Thr
XM_006718839.3:c.2204A>C	XP_006718902.2:p.Lys735Thr
XM_011542829.2:c.4820A>C	XP_011541131.1:p.Lys1607Thr
XM_011542830.2:c.4817A>C	XP_011541132.1:p.Lys1606Thr
XM_011542831.2:c.4820A>C	XP_011541133.1:p.Lys1607Thr
XM_011542833.2:c.2303A>C	XP_011541135.1:p.Lys768Thr
NM_001197104.2:c.4721A>C MANE Select	NP_001184033.1:p.Lys1574Thr
NM_005933.4:c.4721A>C	NP_005924.2:p.Lys1574Thr