Canonical Allele Identifier: CA16619283
Gene: KMT2A HGNC NCBI

Linked Data

ClinVar Variation Id: 424534
ClinVar RCV Id: RCV000485152
dbSNP Id: rs1064797024

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118506031C>G , CM000673.2:g.118506031C>G GRCh38
NC_000011.9:g.118376746C>G , CM000673.1:g.118376746C>G GRCh37
NC_000011.8:g.117881956C>G NCBI36
NG_027813.1:g.74542C>G , LRG_613:g.74542C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000531904.7:c.10238C>G ENSP00000432391.3:p.Ser3413Ter
ENST00000710560.1:c.10229C>G ENSP00000518343.1:p.Ser3410Ter
ENST00000649878.2:c.4178C>G ENSP00000497891.2:p.Ser1393Ter
ENST00000685397.1:c.4178C>G ENSP00000509586.1:p.Ser1393Ter
ENST00000686370.1:c.4178C>G ENSP00000509179.1:p.Ser1393Ter
ENST00000689424.1:c.4436C>G ENSP00000509852.1:p.Ser1479Ter
ENST00000691053.1:c.10211C>G ENSP00000509168.1:p.Ser3404Ter
ENST00000389506.10:c.10130C>G ENSP00000374157.5:p.Ser3377Ter
ENST00000534085.2:n.418C>G
ENST00000534358.8:c.10139C>G MANE Select ENSP00000436786.2:p.Ser3380Ter
ENST00000649699.1:c.10016C>G ENSP00000496927.1:p.Ser3339Ter
ENST00000389506.9:c.10130C>G ENSP00000374157.5:p.Ser3377Ter
ENST00000534358.5:c.10139C>G ENSP00000436786.1:p.Ser3380Ter
NM_001197104.1:c.10139C>G , LRG_613t1:c.10139C>G NP_001184033.1:p.Ser3380Ter
NM_005933.3:c.10130C>G NP_005924.2:p.Ser3377Ter
XM_006718839.2:c.7622C>G XP_006718902.2:p.Ser2541Ter
XM_011542829.1:c.10238C>G XP_011541131.1:p.Ser3413Ter
XM_011542830.1:c.10235C>G XP_011541132.1:p.Ser3412Ter
XM_011542831.1:c.10229C>G XP_011541133.1:p.Ser3410Ter
XM_011542832.1:c.8045C>G XP_011541134.1:p.Ser2682Ter
XM_011542833.1:c.7721C>G XP_011541135.1:p.Ser2574Ter
XM_006718839.3:c.7622C>G XP_006718902.2:p.Ser2541Ter
XM_011542829.2:c.10238C>G XP_011541131.1:p.Ser3413Ter
XM_011542830.2:c.10235C>G XP_011541132.1:p.Ser3412Ter
XM_011542831.2:c.10229C>G XP_011541133.1:p.Ser3410Ter
XM_011542833.2:c.7721C>G XP_011541135.1:p.Ser2574Ter
NM_001197104.2:c.10139C>G MANE Select NP_001184033.1:p.Ser3380Ter
NM_005933.4:c.10130C>G NP_005924.2:p.Ser3377Ter