Canonical Allele Identifier: CA382826401

Gene: KMT2A

Linked Data

• MyVariant Identifiers: chr11:g.118350919G>C (hg19) ; chr11:g.118480204G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118480204G>C , CM000673.2:g.118480204G>C	GRCh38
NC_000011.9:g.118350919G>C , CM000673.1:g.118350919G>C	GRCh37
NC_000011.8:g.117856129G>C	NCBI36
NG_027813.1:g.48715G>C , LRG_613:g.48715G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.3699G>C	ENSP00000432391.3:p.Met1233Ile
ENST00000710560.1:c.3699G>C	ENSP00000518343.1:p.Met1233Ile
ENST00000527869.7:c.1182G>C	ENSP00000432652.3:p.Met394Ile
ENST00000533790.3:c.1083G>C	ENSP00000436700.3:p.Met361Ile
ENST00000649690.2:c.1407G>C	ENSP00000497372.2:p.Met469Ile
ENST00000685719.1:c.581G>C
ENST00000691053.1:c.3600G>C	ENSP00000509168.1:p.Met1200Ile
ENST00000389506.10:c.3600G>C	ENSP00000374157.5:p.Met1200Ile
ENST00000533790.2:c.852G>C	ENSP00000436700.2:p.Met284Ile
ENST00000534358.8:c.3600G>C MANE Select	ENSP00000436786.2:p.Met1200Ile
ENST00000648261.1:c.2370G>C	ENSP00000498126.1:p.Met790Ile
ENST00000649699.1:c.3600G>C	ENSP00000496927.1:p.Met1200Ile
ENST00000389506.9:c.3600G>C	ENSP00000374157.5:p.Met1200Ile
ENST00000531904.6:c.3699G>C	ENSP00000432391.2:p.Met1233Ile
ENST00000534358.5:c.3600G>C	ENSP00000436786.1:p.Met1200Ile
NM_001197104.1:c.3600G>C , LRG_613t1:c.3600G>C	NP_001184033.1:p.Met1200Ile
NM_005933.3:c.3600G>C	NP_005924.2:p.Met1200Ile
XM_006718839.2:c.1083G>C	XP_006718902.2:p.Met361Ile
XM_011542829.1:c.3699G>C	XP_011541131.1:p.Met1233Ile
XM_011542830.1:c.3699G>C	XP_011541132.1:p.Met1233Ile
XM_011542831.1:c.3699G>C	XP_011541133.1:p.Met1233Ile
XM_011542832.1:c.1506G>C	XP_011541134.1:p.Met502Ile
XM_011542833.1:c.1182G>C	XP_011541135.1:p.Met394Ile
XM_006718839.3:c.1083G>C	XP_006718902.2:p.Met361Ile
XM_011542829.2:c.3699G>C	XP_011541131.1:p.Met1233Ile
XM_011542830.2:c.3699G>C	XP_011541132.1:p.Met1233Ile
XM_011542831.2:c.3699G>C	XP_011541133.1:p.Met1233Ile
XM_011542833.2:c.1182G>C	XP_011541135.1:p.Met394Ile
NM_001197104.2:c.3600G>C MANE Select	NP_001184033.1:p.Met1200Ile
NM_005933.4:c.3600G>C	NP_005924.2:p.Met1200Ile