Canonical Allele Identifier: CA370093239
Gene: KMT2C HGNC NCBI

Linked Data

dbSNP Id: rs2129095564

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152148844G>C , CM000669.2:g.152148844G>C GRCh38
NC_000007.13:g.151845929G>C , CM000669.1:g.151845929G>C GRCh37
NC_000007.12:g.151476862G>C NCBI36
NG_033948.1:g.292162C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682040.1:c.1271C>G
ENST00000682116.1:n.2215C>G
ENST00000682283.1:c.13254C>G ENSP00000507485.1:p.Ser4418Arg
ENST00000682629.1:n.2383C>G
ENST00000683120.1:n.8275C>G
ENST00000683178.1:c.3656C>G
ENST00000683200.1:c.10593C>G ENSP00000508052.1:p.Ser3531Arg
ENST00000683337.1:n.4713C>G
ENST00000683502.1:c.3728C>G
ENST00000683621.1:n.1849C>G
ENST00000683640.1:n.1799C>G
ENST00000684069.1:c.1500C>G ENSP00000507650.1:p.Ser500Arg
ENST00000684261.1:c.7980C>G ENSP00000508097.1:p.Ser2660Arg
ENST00000684649.1:c.3728C>G
ENST00000262189.11:c.13083C>G MANE Select ENSP00000262189.6:p.Ser4361Arg
ENST00000360104.8:c.8870C>G
ENST00000418061.2:c.3725C>G
ENST00000424877.6:c.3659C>G
ENST00000679393.1:n.7794C>G
ENST00000679560.1:c.7983C>G ENSP00000505094.1:p.Ser2661Arg
ENST00000679882.1:c.12648C>G ENSP00000506154.1:p.Ser4216Arg
ENST00000680029.1:c.3660C>G
ENST00000680877.1:c.7983C>G ENSP00000505724.1:p.Ser2661Arg
ENST00000681923.1:n.2098C>G
ENST00000262189.10:c.13083C>G ENSP00000262189.6:p.Ser4361Arg
ENST00000355193.6:c.13083C>G ENSP00000347325.3:p.Ser4361Arg
ENST00000360104.7:c.5764C>G
ENST00000424877.5:c.2934C>G ENSP00000410411.1:p.Ser978Arg
ENST00000473186.5:n.10965C>G
ENST00000558084.5:c.*10603C>G ENSP00000453752.1:n.*10603C>G
NM_170606.2:c.13083C>G NP_733751.2:p.Ser4361Arg
XM_005250025.3:c.13299C>G XP_005250082.1:p.Ser4433Arg
XM_005250026.2:c.13296C>G XP_005250083.1:p.Ser4432Arg
XM_005250027.3:c.13296C>G XP_005250084.1:p.Ser4432Arg
XM_005250028.3:c.13299C>G XP_005250085.1:p.Ser4433Arg
XM_005250031.3:c.13134C>G XP_005250088.1:p.Ser4378Arg
XM_006716077.2:c.13296C>G XP_006716140.1:p.Ser4432Arg
XM_006716078.2:c.13227C>G XP_006716141.1:p.Ser4409Arg
XM_006716079.2:c.13131C>G XP_006716142.1:p.Ser4377Arg
XM_011516450.1:c.13251C>G XP_011514752.1:p.Ser4417Arg
XM_011516451.1:c.13179C>G XP_011514753.1:p.Ser4393Arg
XM_011516452.1:c.13146C>G XP_011514754.1:p.Ser4382Arg
XM_011516453.1:c.13062C>G XP_011514755.1:p.Ser4354Arg
XM_011516454.1:c.12384C>G XP_011514756.1:p.Ser4128Arg
XM_011516455.1:c.10845C>G XP_011514757.1:p.Ser3615Arg
XM_011516456.1:c.13251C>G XP_011514758.1:p.Ser4417Arg
XM_005250025.4:c.13299C>G XP_005250082.1:p.Ser4433Arg
XM_005250026.3:c.13296C>G XP_005250083.1:p.Ser4432Arg
XM_005250027.4:c.13296C>G XP_005250084.1:p.Ser4432Arg
XM_005250028.4:c.13299C>G XP_005250085.1:p.Ser4433Arg
XM_005250031.4:c.13134C>G XP_005250088.1:p.Ser4378Arg
XM_006716077.3:c.13296C>G XP_006716140.1:p.Ser4432Arg
XM_006716078.3:c.13227C>G XP_006716141.1:p.Ser4409Arg
XM_006716079.3:c.13131C>G XP_006716142.1:p.Ser4377Arg
XM_011516450.2:c.13251C>G XP_011514752.1:p.Ser4417Arg
XM_011516451.2:c.13179C>G XP_011514753.1:p.Ser4393Arg
XM_011516452.2:c.13146C>G XP_011514754.1:p.Ser4382Arg
XM_011516453.2:c.13062C>G XP_011514755.1:p.Ser4354Arg
XM_011516454.2:c.12384C>G XP_011514756.1:p.Ser4128Arg
XM_011516456.2:c.13251C>G XP_011514758.1:p.Ser4417Arg
XM_017012480.1:c.13299C>G XP_016867969.1:p.Ser4433Arg
XM_017012481.1:c.13296C>G XP_016867970.1:p.Ser4432Arg
XM_017012482.1:c.13296C>G XP_016867971.1:p.Ser4432Arg
XM_017012483.1:c.13296C>G XP_016867972.1:p.Ser4432Arg
XM_017012484.1:c.13266C>G XP_016867973.1:p.Ser4422Arg
XM_017012485.1:c.13248C>G XP_016867974.1:p.Ser4416Arg
XM_017012486.1:c.13224C>G XP_016867975.1:p.Ser4408Arg
XM_017012487.1:c.13152C>G XP_016867976.1:p.Ser4384Arg
XM_017012488.1:c.13116C>G XP_016867977.1:p.Ser4372Arg
XM_017012489.1:c.9969C>G XP_016867978.1:p.Ser3323Arg
XM_017012490.2:c.9573C>G XP_016867979.1:p.Ser3191Arg
XM_024446852.1:c.13296C>G XP_024302620.1:p.Ser4432Arg
XM_024446853.1:c.13224C>G XP_024302621.1:p.Ser4408Arg
NM_170606.3:c.13083C>G MANE Select NP_733751.2:p.Ser4361Arg