Canonical Allele Identifier: CA384698011
Community Standard Title: NM_003482.4(KMT2D):c.14076-2A>C
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49029238T>G , CM000674.2:g.49029238T>G GRCh38
NC_000012.11:g.49423021T>G , CM000674.1:g.49423021T>G GRCh37
NC_000012.10:g.47709288T>G NCBI36
NG_027827.1:g.31087A>C

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.14076-2A>C MANE Select NP_003473.3:n.14076-2A>C
ENST00000301067.12:c.14076-2A>C MANE Select ENSP00000301067.7:n.14076-2A>C
NM_003482.3:c.14076-2A>C NP_003473.3:n.14076-2A>C
ENST00000301067.11:c.14076-2A>C ENSP00000301067.7:n.14076-2A>C
ENST00000683543.2:c.14076-2A>C ENSP00000506726.1:n.14076-2A>C
ENST00000685166.1:c.14085-2A>C ENSP00000509386.1:n.14085-2A>C
ENST00000685979.1:c.339-2A>C ENSP00000508906.1:n.339-2A>C
ENST00000686564.1:c.336-2A>C ENSP00000509290.1:n.336-2A>C
ENST00000687241.1:c.168-2A>C ENSP00000509842.1:n.168-2A>C
ENST00000691986.1:c.375-2A>C ENSP00000509196.1:n.375-2A>C
ENST00000692637.1:c.14073-2A>C ENSP00000509666.1:n.14073-2A>C
XM_005269162.3:c.14076-2A>C XP_005269219.1:n.14076-2A>C
XM_005269162.4:c.14076-2A>C XP_005269219.1:n.14076-2A>C
XM_006719614.2:c.14085-2A>C XP_006719677.1:n.14085-2A>C
XM_006719614.4:c.14085-2A>C XP_006719677.1:n.14085-2A>C
XM_006719616.2:c.14073-2A>C XP_006719679.1:n.14073-2A>C
XM_006719616.3:c.14073-2A>C XP_006719679.1:n.14073-2A>C
XM_011538770.1:c.14085-2A>C XP_011537072.1:n.14085-2A>C
XM_011538770.2:c.14085-2A>C XP_011537072.1:n.14085-2A>C
XM_011538771.1:c.14082-2A>C XP_011537073.1:n.14082-2A>C
XM_011538771.2:c.14082-2A>C XP_011537073.1:n.14082-2A>C
XM_011538772.1:c.14076-2A>C XP_011537074.1:n.14076-2A>C
XM_011538772.2:c.14076-2A>C XP_011537074.1:n.14076-2A>C
XM_011538773.1:c.14073-2A>C XP_011537075.1:n.14073-2A>C
XM_011538773.2:c.14073-2A>C XP_011537075.1:n.14073-2A>C
XM_011538774.1:c.14064-2A>C XP_011537076.1:n.14064-2A>C
XM_011538774.2:c.14064-2A>C XP_011537076.1:n.14064-2A>C
XM_011538775.1:c.14019-2A>C XP_011537077.1:n.14019-2A>C
XM_011538776.1:c.13992-2A>C XP_011537078.1:n.13992-2A>C
XM_011538776.2:c.13992-2A>C XP_011537078.1:n.13992-2A>C
XR_001748874.1:n.15394-2A>C
XR_944740.1:n.16405-2A>C