Canonical Allele Identifier: CA382805093

Gene: KMT2A

Linked Data

• dbSNP Id: rs781927823
• gnomAD v2: 11-118373926-T-C
• gnomAD v4: 11-118503211-T-C
• MyVariant Identifiers: chr11:g.118373926T>C (hg19) ; chr11:g.118503211T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118503211T>C , CM000673.2:g.118503211T>C	GRCh38
NC_000011.9:g.118373926T>C , CM000673.1:g.118373926T>C	GRCh37
NC_000011.8:g.117879136T>C	NCBI36
NG_027813.1:g.71722T>C , LRG_613:g.71722T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.7418T>C	ENSP00000432391.3:p.Phe2473Ser
ENST00000710560.1:c.7409T>C	ENSP00000518343.1:p.Phe2470Ser
ENST00000649878.2:c.1358T>C	ENSP00000497891.2:p.Phe453Ser
ENST00000685397.1:c.1358T>C	ENSP00000509586.1:p.Phe453Ser
ENST00000686370.1:c.1358T>C	ENSP00000509179.1:p.Phe453Ser
ENST00000689424.1:c.1616T>C	ENSP00000509852.1:p.Phe539Ser
ENST00000691053.1:c.7391T>C	ENSP00000509168.1:p.Phe2464Ser
ENST00000389506.10:c.7310T>C	ENSP00000374157.5:p.Phe2437Ser
ENST00000528278.2:n.6661T>C
ENST00000534358.8:c.7319T>C MANE Select	ENSP00000436786.2:p.Phe2440Ser
ENST00000649699.1:c.7196T>C	ENSP00000496927.1:p.Phe2399Ser
ENST00000389506.9:c.7310T>C	ENSP00000374157.5:p.Phe2437Ser
ENST00000528278.1:n.1446T>C
ENST00000534358.5:c.7319T>C	ENSP00000436786.1:p.Phe2440Ser
NM_001197104.1:c.7319T>C , LRG_613t1:c.7319T>C	NP_001184033.1:p.Phe2440Ser
NM_005933.3:c.7310T>C	NP_005924.2:p.Phe2437Ser
XM_006718839.2:c.4802T>C	XP_006718902.2:p.Phe1601Ser
XM_011542829.1:c.7418T>C	XP_011541131.1:p.Phe2473Ser
XM_011542830.1:c.7415T>C	XP_011541132.1:p.Phe2472Ser
XM_011542831.1:c.7409T>C	XP_011541133.1:p.Phe2470Ser
XM_011542832.1:c.5225T>C	XP_011541134.1:p.Phe1742Ser
XM_011542833.1:c.4901T>C	XP_011541135.1:p.Phe1634Ser
XM_006718839.3:c.4802T>C	XP_006718902.2:p.Phe1601Ser
XM_011542829.2:c.7418T>C	XP_011541131.1:p.Phe2473Ser
XM_011542830.2:c.7415T>C	XP_011541132.1:p.Phe2472Ser
XM_011542831.2:c.7409T>C	XP_011541133.1:p.Phe2470Ser
XM_011542833.2:c.4901T>C	XP_011541135.1:p.Phe1634Ser
NM_001197104.2:c.7319T>C MANE Select	NP_001184033.1:p.Phe2440Ser
NM_005933.4:c.7310T>C	NP_005924.2:p.Phe2437Ser