Canonical Allele Identifier: CA2573152555
Gene: CARMIL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67654845_67654858dup , CM000678.2:g.67654845_67654858dup GRCh38
NC_000016.9:g.67688748_67688761dup , CM000678.1:g.67688748_67688761dup GRCh37
NC_000016.8:g.66246249_66246262dup NCBI36
NG_054728.1:g.14927_14940dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000602924.2:c.632_645dup ENSP00000512349.1:p.Val216CysfsTer4
ENST00000696175.1:c.3557_3570dup ENSP00000512465.1:p.Val1191CysfsTer4
ENST00000696176.1:c.3557_3570dup ENSP00000512466.1:p.Val1191CysfsTer4
ENST00000334583.11:c.3650_3663dup MANE Select ENSP00000334958.5:p.Val1222CysfsTer4
ENST00000334583.10:c.3650_3663dup ENSP00000334958.5:p.Val1222CysfsTer4
ENST00000545661.5:c.3542_3555dup ENSP00000441481.1:p.Val1186CysfsTer4
ENST00000602368.1:c.243_256dup
NM_001013838.1:c.3650_3663dup NP_001013860.1:p.Val1222CysfsTer4
NM_001317026.1:c.3542_3555dup NP_001303955.1:p.Val1186CysfsTer4
XM_011522874.1:c.3557_3570dup XP_011521176.1:p.Val1191CysfsTer4
XM_011522875.1:c.1643_1656dup XP_011521177.1:p.Val553CysfsTer4
NM_001013838.2:c.3650_3663dup NP_001013860.1:p.Val1222CysfsTer4
NM_001317026.2:c.3542_3555dup NP_001303955.1:p.Val1186CysfsTer4
XM_011522875.2:c.3557_3570dup XP_011521177.2:p.Val1191CysfsTer4
XM_017022953.1:c.3557_3570dup XP_016878442.1:p.Val1191CysfsTer4
XR_001751843.1:n.3800_3813dup
NM_001013838.3:c.3650_3663dup MANE Select NP_001013860.1:p.Val1222CysfsTer4
NM_001317026.3:c.3542_3555dup NP_001303955.1:p.Val1186CysfsTer4