Canonical Allele Identifier: CA16618421
Gene: KMT2C HGNC NCBI

Linked Data

ClinVar Variation Id: 424130
ClinVar RCV Id: RCV000478495
dbSNP Id: rs1064796813

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152158900_152158901insC , CM000669.2:g.152158900_152158901insC GRCh38
NC_000007.13:g.151855985_151855986insC , CM000669.1:g.151855985_151855986insC GRCh37
NC_000007.12:g.151486918_151486919insC NCBI36
NG_033948.1:g.282105_282106insG

Transcript Alleles

HGVS Amino-acid change
ENST00000682283.1:c.11632_11633insG ENSP00000507485.1:p.Met3878SerfsTer4
ENST00000683120.1:n.6662_6663insG
ENST00000683178.1:c.2115_2116insG
ENST00000683200.1:c.8980_8981insG ENSP00000508052.1:p.Met2994SerfsTer4
ENST00000683397.1:c.6390_6391insG ENSP00000507053.1:n.6390_6391insG
ENST00000683502.1:c.2115_2116insG
ENST00000683625.1:c.5845_5846insG ENSP00000507769.1:p.Met1949SerfsTer4
ENST00000683670.1:c.6418_6419insG ENSP00000507634.1:p.Met2140SerfsTer4
ENST00000683886.1:n.1228_1229insG
ENST00000684261.1:c.6367_6368insG ENSP00000508097.1:p.Met2123SerfsTer4
ENST00000684307.1:c.6303_6304insG ENSP00000507202.1:n.6303_6304insG
ENST00000684398.1:c.6271_6272insG ENSP00000507254.1:p.Met2091SerfsTer4
ENST00000684649.1:c.2115_2116insG
ENST00000262189.11:c.11632_11633insG MANE Select ENSP00000262189.6:p.Met3878SerfsTer4
ENST00000360104.8:c.7254_7255insG
ENST00000418061.2:c.2115_2116insG
ENST00000424877.6:c.2115_2116insG
ENST00000679393.1:n.5123_5124insG
ENST00000679560.1:c.6367_6368insG ENSP00000505094.1:p.Met2123SerfsTer4
ENST00000679882.1:c.11236-2555_11236-2554insG ENSP00000506154.1:n.11236-2555_11236-2554...
ENST00000680029.1:c.2115_2116insG
ENST00000680877.1:c.6367_6368insG ENSP00000505724.1:p.Met2123SerfsTer4
ENST00000681923.1:n.485_486insG
ENST00000262189.10:c.11632_11633insG ENSP00000262189.6:p.Met3878SerfsTer4
ENST00000355193.6:c.11632_11633insG ENSP00000347325.3:p.Met3878SerfsTer4
ENST00000360104.7:c.4148_4149insG
ENST00000418061.1:c.49-2555_49-2554insG ENSP00000408001.1:n.49-2555_49-2554insG
ENST00000424877.5:c.1390_1391insG ENSP00000410411.1:p.Met464SerfsTer4
ENST00000473186.5:n.9343_9344insG
ENST00000558084.5:c.*9152_*9153insG ENSP00000453752.1:n.*9152_*9153insG
NM_170606.2:c.11632_11633insG NP_733751.2:p.Met3878SerfsTer4
XM_005250025.3:c.11683_11684insG XP_005250082.1:p.Met3895SerfsTer4
XM_005250026.2:c.11680_11681insG XP_005250083.1:p.Met3894SerfsTer4
XM_005250027.3:c.11683_11684insG XP_005250084.1:p.Met3895SerfsTer4
XM_005250028.3:c.11683_11684insG XP_005250085.1:p.Met3895SerfsTer4
XM_005250031.3:c.11683_11684insG XP_005250088.1:p.Met3895SerfsTer4
XM_006716077.2:c.11683_11684insG XP_006716140.1:p.Met3895SerfsTer4
XM_006716078.2:c.11683_11684insG XP_006716141.1:p.Met3895SerfsTer4
XM_006716079.2:c.11683_11684insG XP_006716142.1:p.Met3895SerfsTer4
XM_011516450.1:c.11635_11636insG XP_011514752.1:p.Met3879SerfsTer4
XM_011516451.1:c.11563_11564insG XP_011514753.1:p.Met3855SerfsTer4
XM_011516452.1:c.11530_11531insG XP_011514754.1:p.Met3844SerfsTer4
XM_011516453.1:c.11683_11684insG XP_011514755.1:p.Met3895SerfsTer4
XM_011516454.1:c.10768_10769insG XP_011514756.1:p.Met3590SerfsTer4
XM_011516455.1:c.9229_9230insG XP_011514757.1:p.Met3077SerfsTer4
XM_011516456.1:c.11635_11636insG XP_011514758.1:p.Met3879SerfsTer4
XR_428183.2:n.11891_11892insG
XM_005250025.4:c.11683_11684insG XP_005250082.1:p.Met3895SerfsTer4
XM_005250026.3:c.11680_11681insG XP_005250083.1:p.Met3894SerfsTer4
XM_005250027.4:c.11683_11684insG XP_005250084.1:p.Met3895SerfsTer4
XM_005250028.4:c.11683_11684insG XP_005250085.1:p.Met3895SerfsTer4
XM_005250031.4:c.11683_11684insG XP_005250088.1:p.Met3895SerfsTer4
XM_006716077.3:c.11683_11684insG XP_006716140.1:p.Met3895SerfsTer4
XM_006716078.3:c.11683_11684insG XP_006716141.1:p.Met3895SerfsTer4
XM_006716079.3:c.11683_11684insG XP_006716142.1:p.Met3895SerfsTer4
XM_011516450.2:c.11635_11636insG XP_011514752.1:p.Met3879SerfsTer4
XM_011516451.2:c.11563_11564insG XP_011514753.1:p.Met3855SerfsTer4
XM_011516452.2:c.11530_11531insG XP_011514754.1:p.Met3844SerfsTer4
XM_011516453.2:c.11683_11684insG XP_011514755.1:p.Met3895SerfsTer4
XM_011516454.2:c.10768_10769insG XP_011514756.1:p.Met3590SerfsTer4
XM_011516456.2:c.11635_11636insG XP_011514758.1:p.Met3879SerfsTer4
XM_017012480.1:c.11683_11684insG XP_016867969.1:p.Met3895SerfsTer4
XM_017012481.1:c.11680_11681insG XP_016867970.1:p.Met3894SerfsTer4
XM_017012482.1:c.11683_11684insG XP_016867971.1:p.Met3895SerfsTer4
XM_017012483.1:c.11683_11684insG XP_016867972.1:p.Met3895SerfsTer4
XM_017012484.1:c.11650_11651insG XP_016867973.1:p.Met3884SerfsTer4
XM_017012485.1:c.11632_11633insG XP_016867974.1:p.Met3878SerfsTer4
XM_017012486.1:c.11683_11684insG XP_016867975.1:p.Met3895SerfsTer4
XM_017012487.1:c.11536_11537insG XP_016867976.1:p.Met3846SerfsTer4
XM_017012488.1:c.11500_11501insG XP_016867977.1:p.Met3834SerfsTer4
XM_017012489.1:c.8353_8354insG XP_016867978.1:p.Met2785SerfsTer4
XM_017012490.2:c.7957_7958insG XP_016867979.1:p.Met2653SerfsTer4
XM_024446852.1:c.11680_11681insG XP_024302620.1:p.Met3894SerfsTer4
XM_024446853.1:c.11683_11684insG XP_024302621.1:p.Met3895SerfsTer4
XR_428183.3:n.11915_11916insG
NM_170606.3:c.11632_11633insG MANE Select NP_733751.2:p.Met3878SerfsTer4