Canonical Allele Identifier: CA382802600

Gene: KMT2A

Linked Data

• dbSNP Id: rs1555046078
• gnomAD v2: 11-118373271-T-C
• gnomAD v3: 11-118502556-T-C
• gnomAD v4: 11-118502556-T-C
• MyVariant Identifiers: chr11:g.118373271T>C (hg19) ; chr11:g.118502556T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118502556T>C , CM000673.2:g.118502556T>C	GRCh38
NC_000011.9:g.118373271T>C , CM000673.1:g.118373271T>C	GRCh37
NC_000011.8:g.117878481T>C	NCBI36
NG_027813.1:g.71067T>C , LRG_613:g.71067T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000531904.7:c.6763T>C	ENSP00000432391.3:p.Tyr2255His
ENST00000710560.1:c.6754T>C	ENSP00000518343.1:p.Tyr2252His
ENST00000649878.2:c.703T>C	ENSP00000497891.2:p.Tyr235His
ENST00000685397.1:c.703T>C	ENSP00000509586.1:p.Tyr235His
ENST00000686370.1:c.703T>C	ENSP00000509179.1:p.Tyr235His
ENST00000689424.1:c.961T>C	ENSP00000509852.1:p.Tyr321His
ENST00000691053.1:c.6736T>C	ENSP00000509168.1:p.Tyr2246His
ENST00000389506.10:c.6655T>C	ENSP00000374157.5:p.Tyr2219His
ENST00000528278.2:n.6006T>C
ENST00000534358.8:c.6664T>C MANE Select	ENSP00000436786.2:p.Tyr2222His
ENST00000649699.1:c.6541T>C	ENSP00000496927.1:p.Tyr2181His
ENST00000389506.9:c.6655T>C	ENSP00000374157.5:p.Tyr2219His
ENST00000528278.1:n.791T>C
ENST00000534358.5:c.6664T>C	ENSP00000436786.1:p.Tyr2222His
NM_001197104.1:c.6664T>C , LRG_613t1:c.6664T>C	NP_001184033.1:p.Tyr2222His
NM_005933.3:c.6655T>C	NP_005924.2:p.Tyr2219His
XM_006718839.2:c.4147T>C	XP_006718902.2:p.Tyr1383His
XM_011542829.1:c.6763T>C	XP_011541131.1:p.Tyr2255His
XM_011542830.1:c.6760T>C	XP_011541132.1:p.Tyr2254His
XM_011542831.1:c.6754T>C	XP_011541133.1:p.Tyr2252His
XM_011542832.1:c.4570T>C	XP_011541134.1:p.Tyr1524His
XM_011542833.1:c.4246T>C	XP_011541135.1:p.Tyr1416His
XM_006718839.3:c.4147T>C	XP_006718902.2:p.Tyr1383His
XM_011542829.2:c.6763T>C	XP_011541131.1:p.Tyr2255His
XM_011542830.2:c.6760T>C	XP_011541132.1:p.Tyr2254His
XM_011542831.2:c.6754T>C	XP_011541133.1:p.Tyr2252His
XM_011542833.2:c.4246T>C	XP_011541135.1:p.Tyr1416His
NM_001197104.2:c.6664T>C MANE Select	NP_001184033.1:p.Tyr2222His
NM_005933.4:c.6655T>C	NP_005924.2:p.Tyr2219His