Canonical Allele Identifier: CA430272278

Linked Data

MyVariant Identifiers: chr2:g.179474673A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178609946A>C , CM000664.2:g.178609946A>C GRCh38
NC_000002.11:g.179474673A>C , CM000664.1:g.179474673A>C GRCh37
NC_000002.10:g.179182918A>C NCBI36
NG_011618.3:g.225857T>G , LRG_391:g.225857T>G
NG_051363.1:g.92120A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.43773T>G (TTN) ENSP00000343764.6:p.Pro14591=
ENST00000342175.11:c.24858T>G (TTN) ENSP00000340554.6:p.Pro8286=
ENST00000359218.10:c.24657T>G (TTN) ENSP00000352154.5:p.Pro8219=
ENST00000342175.10:c.24858T>G (TTN) ENSP00000340554.6:p.Pro8286=
ENST00000342992.10:c.43773T>G (TTN) ENSP00000343764.6:p.Pro14591=
ENST00000359218.9:c.24657T>G (TTN) ENSP00000352154.5:p.Pro8219=
ENST00000460472.6:c.24282T>G (TTN) ENSP00000434586.1:p.Pro8094=
ENST00000589042.5:c.51477T>G (TTN) MANE Select ENSP00000467141.1:p.Pro17159=
ENST00000591111.5:c.46554T>G (TTN) ENSP00000465570.1:p.Pro15518=
ENST00000615779.4:c.46554T>G (TTN) ENSP00000483597.1:p.Pro15518=
NM_001256850.1:c.46554T>G (TTN) NP_001243779.1:p.Pro15518=
NM_001267550.2:c.51477T>G (TTN) MANE Select NP_001254479.2:p.Pro17159=
NM_003319.4:c.24282T>G (TTN) NP_003310.4:p.Pro8094=
NM_133378.4:c.43773T>G (TTN) NP_596869.4:p.Pro14591=
NM_133432.3:c.24657T>G (TTN) NP_597676.3:p.Pro8219=
NM_133437.4:c.24858T>G (TTN) NP_597681.4:p.Pro8286=
NR_038271.1:n.782+1680A>C (TTN-AS1)
XM_011511729.1:c.50574T>G (TTN) XP_011510031.1:p.Pro16858=
XM_011511730.1:c.24468T>G (TTN) XP_011510032.1:p.Pro8156=
XM_011511731.1:c.24327T>G (TTN) XP_011510033.1:p.Pro8109=
XM_017004819.1:c.50370T>G (TTN) XP_016860308.1:p.Pro16790=
XM_017004820.1:c.45768T>G (TTN) XP_016860309.1:p.Pro15256=
XM_017004821.1:c.45765T>G (TTN) XP_016860310.1:p.Pro15255=
XM_017004822.1:c.42807T>G (TTN) XP_016860311.1:p.Pro14269=
XM_017004823.1:c.24423T>G (TTN) XP_016860312.1:p.Pro8141=
XM_024453094.1:c.45918T>G (TTN) XP_024308862.1:p.Pro15306=
XM_024453095.1:c.45915T>G (TTN) XP_024308863.1:p.Pro15305=
XM_024453096.1:c.45348T>G (TTN) XP_024308864.1:p.Pro15116=
XM_024453097.1:c.42690T>G (TTN) XP_024308865.1:p.Pro14230=
XM_024453098.1:c.42609T>G (TTN) XP_024308866.1:p.Pro14203=
XM_024453099.1:c.24372T>G (TTN) XP_024308867.1:p.Pro8124=
XM_024453100.1:c.14226T>G (TTN) XP_024308868.1:p.Pro4742=