Canonical Allele Identifier: CA430235529

Linked Data

MyVariant Identifiers: chr2:g.179395334A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530607A>G , CM000664.2:g.178530607A>G GRCh38
NC_000002.11:g.179395334A>G , CM000664.1:g.179395334A>G GRCh37
NC_000002.10:g.179103580A>G NCBI36
NG_011618.3:g.305196T>C , LRG_391:g.305196T>C
NG_051363.1:g.12781A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98304T>C (TTN) ENSP00000343764.6:p.Tyr32768=
ENST00000342175.11:c.79389T>C (TTN) ENSP00000340554.6:p.Tyr26463=
ENST00000359218.10:c.79188T>C (TTN) ENSP00000352154.5:p.Tyr26396=
ENST00000342175.10:c.79389T>C (TTN) ENSP00000340554.6:p.Tyr26463=
ENST00000342992.10:c.98304T>C (TTN) ENSP00000343764.6:p.Tyr32768=
ENST00000359218.9:c.79188T>C (TTN) ENSP00000352154.5:p.Tyr26396=
ENST00000460472.6:c.78813T>C (TTN) ENSP00000434586.1:p.Tyr26271=
ENST00000589042.5:c.106008T>C (TTN) MANE Select ENSP00000467141.1:p.Tyr35336=
ENST00000591111.5:c.101085T>C (TTN) ENSP00000465570.1:p.Tyr33695=
ENST00000615779.4:c.101085T>C (TTN) ENSP00000483597.1:p.Tyr33695=
NM_001256850.1:c.101085T>C (TTN) NP_001243779.1:p.Tyr33695=
NM_001267550.2:c.106008T>C (TTN) MANE Select NP_001254479.2:p.Tyr35336=
NM_003319.4:c.78813T>C (TTN) NP_003310.4:p.Tyr26271=
NM_133378.4:c.98304T>C (TTN) NP_596869.4:p.Tyr32768=
NM_133432.3:c.79188T>C (TTN) NP_597676.3:p.Tyr26396=
NM_133437.4:c.79389T>C (TTN) NP_597681.4:p.Tyr26463=
NR_038271.1:n.446+6971A>G (TTN-AS1)
NR_038272.1:n.220-5125A>G (TTN-AS1)
XM_011511729.1:c.105105T>C (TTN) XP_011510031.1:p.Tyr35035=
XM_011511730.1:c.78999T>C (TTN) XP_011510032.1:p.Tyr26333=
XM_011511731.1:c.78858T>C (TTN) XP_011510033.1:p.Tyr26286=
XM_017004819.1:c.104901T>C (TTN) XP_016860308.1:p.Tyr34967=
XM_017004820.1:c.100299T>C (TTN) XP_016860309.1:p.Tyr33433=
XM_017004821.1:c.100296T>C (TTN) XP_016860310.1:p.Tyr33432=
XM_017004822.1:c.97338T>C (TTN) XP_016860311.1:p.Tyr32446=
XM_017004823.1:c.78954T>C (TTN) XP_016860312.1:p.Tyr26318=
XM_024453094.1:c.100449T>C (TTN) XP_024308862.1:p.Tyr33483=
XM_024453095.1:c.100446T>C (TTN) XP_024308863.1:p.Tyr33482=
XM_024453096.1:c.99879T>C (TTN) XP_024308864.1:p.Tyr33293=
XM_024453097.1:c.97221T>C (TTN) XP_024308865.1:p.Tyr32407=
XM_024453098.1:c.97140T>C (TTN) XP_024308866.1:p.Tyr32380=
XM_024453099.1:c.78903T>C (TTN) XP_024308867.1:p.Tyr26301=
XM_024453100.1:c.68757T>C (TTN) XP_024308868.1:p.Tyr22919=