Canonical Allele Identifier: CA430257453

Linked Data

MyVariant Identifiers: chr2:g.179438601A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178573874A>G , CM000664.2:g.178573874A>G GRCh38
NC_000002.11:g.179438601A>G , CM000664.1:g.179438601A>G GRCh37
NC_000002.10:g.179146847A>G NCBI36
NG_011618.3:g.261929T>C , LRG_391:g.261929T>C
NG_051363.1:g.56048A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.64554T>C (TTN) ENSP00000343764.6:p.Asn21518=
ENST00000342175.11:c.45639T>C (TTN) ENSP00000340554.6:p.Asn15213=
ENST00000359218.10:c.45438T>C (TTN) ENSP00000352154.5:p.Asn15146=
ENST00000342175.10:c.45639T>C (TTN) ENSP00000340554.6:p.Asn15213=
ENST00000342992.10:c.64554T>C (TTN) ENSP00000343764.6:p.Asn21518=
ENST00000359218.9:c.45438T>C (TTN) ENSP00000352154.5:p.Asn15146=
ENST00000460472.6:c.45063T>C (TTN) ENSP00000434586.1:p.Asn15021=
ENST00000589042.5:c.72258T>C (TTN) MANE Select ENSP00000467141.1:p.Asn24086=
ENST00000591111.5:c.67335T>C (TTN) ENSP00000465570.1:p.Asn22445=
ENST00000615779.4:c.67335T>C (TTN) ENSP00000483597.1:p.Asn22445=
NM_001256850.1:c.67335T>C (TTN) NP_001243779.1:p.Asn22445=
NM_001267550.2:c.72258T>C (TTN) MANE Select NP_001254479.2:p.Asn24086=
NM_003319.4:c.45063T>C (TTN) NP_003310.4:p.Asn15021=
NM_133378.4:c.64554T>C (TTN) NP_596869.4:p.Asn21518=
NM_133432.3:c.45438T>C (TTN) NP_597676.3:p.Asn15146=
NM_133437.4:c.45639T>C (TTN) NP_597681.4:p.Asn15213=
NR_038271.1:n.596+2425A>G (TTN-AS1)
NR_038272.1:n.2044-8698A>G (TTN-AS1)
XM_011511729.1:c.71355T>C (TTN) XP_011510031.1:p.Asn23785=
XM_011511730.1:c.45249T>C (TTN) XP_011510032.1:p.Asn15083=
XM_011511731.1:c.45108T>C (TTN) XP_011510033.1:p.Asn15036=
XM_017004819.1:c.71151T>C (TTN) XP_016860308.1:p.Asn23717=
XM_017004820.1:c.66549T>C (TTN) XP_016860309.1:p.Asn22183=
XM_017004821.1:c.66546T>C (TTN) XP_016860310.1:p.Asn22182=
XM_017004822.1:c.63588T>C (TTN) XP_016860311.1:p.Asn21196=
XM_017004823.1:c.45204T>C (TTN) XP_016860312.1:p.Asn15068=
XM_024453094.1:c.66699T>C (TTN) XP_024308862.1:p.Asn22233=
XM_024453095.1:c.66696T>C (TTN) XP_024308863.1:p.Asn22232=
XM_024453096.1:c.66129T>C (TTN) XP_024308864.1:p.Asn22043=
XM_024453097.1:c.63471T>C (TTN) XP_024308865.1:p.Asn21157=
XM_024453098.1:c.63390T>C (TTN) XP_024308866.1:p.Asn21130=
XM_024453099.1:c.45153T>C (TTN) XP_024308867.1:p.Asn15051=
XM_024453100.1:c.35007T>C (TTN) XP_024308868.1:p.Asn11669=