Canonical Allele Identifier: CA382826206

Gene: KMT2A

Linked Data

• MyVariant Identifiers: chr11:g.118350891T>A (hg19) ; chr11:g.118480176T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118480176T>A , CM000673.2:g.118480176T>A	GRCh38
NC_000011.9:g.118350891T>A , CM000673.1:g.118350891T>A	GRCh37
NC_000011.8:g.117856101T>A	NCBI36
NG_027813.1:g.48687T>A , LRG_613:g.48687T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.3671T>A	ENSP00000432391.3:p.Met1224Lys
ENST00000710560.1:c.3671T>A	ENSP00000518343.1:p.Met1224Lys
ENST00000527869.7:c.1154T>A	ENSP00000432652.3:p.Met385Lys
ENST00000533790.3:c.1055T>A	ENSP00000436700.3:p.Met352Lys
ENST00000649690.2:c.1379T>A	ENSP00000497372.2:p.Met460Lys
ENST00000685719.1:c.553T>A
ENST00000691053.1:c.3572T>A	ENSP00000509168.1:p.Met1191Lys
ENST00000389506.10:c.3572T>A	ENSP00000374157.5:p.Met1191Lys
ENST00000533790.2:c.824T>A	ENSP00000436700.2:p.Met275Lys
ENST00000534358.8:c.3572T>A MANE Select	ENSP00000436786.2:p.Met1191Lys
ENST00000648261.1:c.2342T>A	ENSP00000498126.1:p.Met781Lys
ENST00000649699.1:c.3572T>A	ENSP00000496927.1:p.Met1191Lys
ENST00000389506.9:c.3572T>A	ENSP00000374157.5:p.Met1191Lys
ENST00000531904.6:c.3671T>A	ENSP00000432391.2:p.Met1224Lys
ENST00000534358.5:c.3572T>A	ENSP00000436786.1:p.Met1191Lys
NM_001197104.1:c.3572T>A , LRG_613t1:c.3572T>A	NP_001184033.1:p.Met1191Lys
NM_005933.3:c.3572T>A	NP_005924.2:p.Met1191Lys
XM_006718839.2:c.1055T>A	XP_006718902.2:p.Met352Lys
XM_011542829.1:c.3671T>A	XP_011541131.1:p.Met1224Lys
XM_011542830.1:c.3671T>A	XP_011541132.1:p.Met1224Lys
XM_011542831.1:c.3671T>A	XP_011541133.1:p.Met1224Lys
XM_011542832.1:c.1478T>A	XP_011541134.1:p.Met493Lys
XM_011542833.1:c.1154T>A	XP_011541135.1:p.Met385Lys
XM_006718839.3:c.1055T>A	XP_006718902.2:p.Met352Lys
XM_011542829.2:c.3671T>A	XP_011541131.1:p.Met1224Lys
XM_011542830.2:c.3671T>A	XP_011541132.1:p.Met1224Lys
XM_011542831.2:c.3671T>A	XP_011541133.1:p.Met1224Lys
XM_011542833.2:c.1154T>A	XP_011541135.1:p.Met385Lys
NM_001197104.2:c.3572T>A MANE Select	NP_001184033.1:p.Met1191Lys
NM_005933.4:c.3572T>A	NP_005924.2:p.Met1191Lys