Canonical Allele Identifier: CA430091492

Linked Data

MyVariant Identifiers: chr2:g.179391784A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527057A>G , CM000664.2:g.178527057A>G GRCh38
NC_000002.11:g.179391784A>G , CM000664.1:g.179391784A>G GRCh37
NC_000002.10:g.179100030A>G NCBI36
NG_011618.3:g.308746T>C , LRG_391:g.308746T>C
NG_051363.1:g.9231A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.100227T>C (TTN) ENSP00000343764.6:p.Phe33409=
ENST00000342175.11:c.81312T>C (TTN) ENSP00000340554.6:p.Phe27104=
ENST00000359218.10:c.81111T>C (TTN) ENSP00000352154.5:p.Phe27037=
ENST00000342175.10:c.81312T>C (TTN) ENSP00000340554.6:p.Phe27104=
ENST00000342992.10:c.100227T>C (TTN) ENSP00000343764.6:p.Phe33409=
ENST00000359218.9:c.81111T>C (TTN) ENSP00000352154.5:p.Phe27037=
ENST00000460472.6:c.80736T>C (TTN) ENSP00000434586.1:p.Phe26912=
ENST00000589042.5:c.107931T>C (TTN) MANE Select ENSP00000467141.1:p.Phe35977=
ENST00000591111.5:c.103008T>C (TTN) ENSP00000465570.1:p.Phe34336=
ENST00000615779.4:c.103008T>C (TTN) ENSP00000483597.1:p.Phe34336=
NM_001256850.1:c.103008T>C (TTN) NP_001243779.1:p.Phe34336=
NM_001267550.2:c.107931T>C (TTN) MANE Select NP_001254479.2:p.Phe35977=
NM_003319.4:c.80736T>C (TTN) NP_003310.4:p.Phe26912=
NM_133378.4:c.100227T>C (TTN) NP_596869.4:p.Phe33409=
NM_133432.3:c.81111T>C (TTN) NP_597676.3:p.Phe27037=
NM_133437.4:c.81312T>C (TTN) NP_597681.4:p.Phe27104=
NR_038271.1:n.446+3421A>G (TTN-AS1)
NR_038272.1:n.219+3421A>G (TTN-AS1)
XM_011511729.1:c.107028T>C (TTN) XP_011510031.1:p.Phe35676=
XM_011511730.1:c.80922T>C (TTN) XP_011510032.1:p.Phe26974=
XM_011511731.1:c.80781T>C (TTN) XP_011510033.1:p.Phe26927=
XM_017004819.1:c.106824T>C (TTN) XP_016860308.1:p.Phe35608=
XM_017004820.1:c.102222T>C (TTN) XP_016860309.1:p.Phe34074=
XM_017004821.1:c.102219T>C (TTN) XP_016860310.1:p.Phe34073=
XM_017004822.1:c.99261T>C (TTN) XP_016860311.1:p.Phe33087=
XM_017004823.1:c.80877T>C (TTN) XP_016860312.1:p.Phe26959=
XM_024453094.1:c.102372T>C (TTN) XP_024308862.1:p.Phe34124=
XM_024453095.1:c.102369T>C (TTN) XP_024308863.1:p.Phe34123=
XM_024453096.1:c.101802T>C (TTN) XP_024308864.1:p.Phe33934=
XM_024453097.1:c.99144T>C (TTN) XP_024308865.1:p.Phe33048=
XM_024453098.1:c.99063T>C (TTN) XP_024308866.1:p.Phe33021=
XM_024453099.1:c.80826T>C (TTN) XP_024308867.1:p.Phe26942=
XM_024453100.1:c.70680T>C (TTN) XP_024308868.1:p.Phe23560=