Canonical Allele Identifier: CA430241437

Linked Data

MyVariant Identifiers: chr2:g.179408067C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543340C>T , CM000664.2:g.178543340C>T GRCh38
NC_000002.11:g.179408067C>T , CM000664.1:g.179408067C>T GRCh37
NC_000002.10:g.179116313C>T NCBI36
NG_011618.3:g.292463G>A , LRG_391:g.292463G>A
NG_051363.1:g.25514C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88929G>A (TTN) ENSP00000343764.6:p.Val29643=
ENST00000342175.11:c.70014G>A (TTN) ENSP00000340554.6:p.Val23338=
ENST00000359218.10:c.69813G>A (TTN) ENSP00000352154.5:p.Val23271=
ENST00000342175.10:c.70014G>A (TTN) ENSP00000340554.6:p.Val23338=
ENST00000342992.10:c.88929G>A (TTN) ENSP00000343764.6:p.Val29643=
ENST00000359218.9:c.69813G>A (TTN) ENSP00000352154.5:p.Val23271=
ENST00000460472.6:c.69438G>A (TTN) ENSP00000434586.1:p.Val23146=
ENST00000589042.5:c.96633G>A (TTN) MANE Select ENSP00000467141.1:p.Val32211=
ENST00000591111.5:c.91710G>A (TTN) ENSP00000465570.1:p.Val30570=
ENST00000615779.4:c.91710G>A (TTN) ENSP00000483597.1:p.Val30570=
NM_001256850.1:c.91710G>A (TTN) NP_001243779.1:p.Val30570=
NM_001267550.2:c.96633G>A (TTN) MANE Select NP_001254479.2:p.Val32211=
NM_003319.4:c.69438G>A (TTN) NP_003310.4:p.Val23146=
NM_133378.4:c.88929G>A (TTN) NP_596869.4:p.Val29643=
NM_133432.3:c.69813G>A (TTN) NP_597676.3:p.Val23271=
NM_133437.4:c.70014G>A (TTN) NP_597681.4:p.Val23338=
NR_038271.1:n.446+19704C>T (TTN-AS1)
NR_038272.1:n.2043+979C>T (TTN-AS1)
XM_011511729.1:c.95730G>A (TTN) XP_011510031.1:p.Val31910=
XM_011511730.1:c.69624G>A (TTN) XP_011510032.1:p.Val23208=
XM_011511731.1:c.69483G>A (TTN) XP_011510033.1:p.Val23161=
XM_017004819.1:c.95526G>A (TTN) XP_016860308.1:p.Val31842=
XM_017004820.1:c.90924G>A (TTN) XP_016860309.1:p.Val30308=
XM_017004821.1:c.90921G>A (TTN) XP_016860310.1:p.Val30307=
XM_017004822.1:c.87963G>A (TTN) XP_016860311.1:p.Val29321=
XM_017004823.1:c.69579G>A (TTN) XP_016860312.1:p.Val23193=
XM_024453094.1:c.91074G>A (TTN) XP_024308862.1:p.Val30358=
XM_024453095.1:c.91071G>A (TTN) XP_024308863.1:p.Val30357=
XM_024453096.1:c.90504G>A (TTN) XP_024308864.1:p.Val30168=
XM_024453097.1:c.87846G>A (TTN) XP_024308865.1:p.Val29282=
XM_024453098.1:c.87765G>A (TTN) XP_024308866.1:p.Val29255=
XM_024453099.1:c.69528G>A (TTN) XP_024308867.1:p.Val23176=
XM_024453100.1:c.59382G>A (TTN) XP_024308868.1:p.Val19794=