Canonical Allele Identifier: CA430241619

Linked Data

MyVariant Identifiers: chr2:g.179408929T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544202T>G , CM000664.2:g.178544202T>G GRCh38
NC_000002.11:g.179408929T>G , CM000664.1:g.179408929T>G GRCh37
NC_000002.10:g.179117175T>G NCBI36
NG_011618.3:g.291601A>C , LRG_391:g.291601A>C
NG_051363.1:g.26376T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88323A>C (TTN) ENSP00000343764.6:p.Ile29441=
ENST00000342175.11:c.69408A>C (TTN) ENSP00000340554.6:p.Ile23136=
ENST00000359218.10:c.69207A>C (TTN) ENSP00000352154.5:p.Ile23069=
ENST00000342175.10:c.69408A>C (TTN) ENSP00000340554.6:p.Ile23136=
ENST00000342992.10:c.88323A>C (TTN) ENSP00000343764.6:p.Ile29441=
ENST00000359218.9:c.69207A>C (TTN) ENSP00000352154.5:p.Ile23069=
ENST00000460472.6:c.68832A>C (TTN) ENSP00000434586.1:p.Ile22944=
ENST00000589042.5:c.96027A>C (TTN) MANE Select ENSP00000467141.1:p.Ile32009=
ENST00000591111.5:c.91104A>C (TTN) ENSP00000465570.1:p.Ile30368=
ENST00000615779.4:c.91104A>C (TTN) ENSP00000483597.1:p.Ile30368=
NM_001256850.1:c.91104A>C (TTN) NP_001243779.1:p.Ile30368=
NM_001267550.2:c.96027A>C (TTN) MANE Select NP_001254479.2:p.Ile32009=
NM_003319.4:c.68832A>C (TTN) NP_003310.4:p.Ile22944=
NM_133378.4:c.88323A>C (TTN) NP_596869.4:p.Ile29441=
NM_133432.3:c.69207A>C (TTN) NP_597676.3:p.Ile23069=
NM_133437.4:c.69408A>C (TTN) NP_597681.4:p.Ile23136=
NR_038271.1:n.446+20566T>G (TTN-AS1)
NR_038272.1:n.2043+1841T>G (TTN-AS1)
XM_011511729.1:c.95124A>C (TTN) XP_011510031.1:p.Ile31708=
XM_011511730.1:c.69018A>C (TTN) XP_011510032.1:p.Ile23006=
XM_011511731.1:c.68877A>C (TTN) XP_011510033.1:p.Ile22959=
XM_017004819.1:c.94920A>C (TTN) XP_016860308.1:p.Ile31640=
XM_017004820.1:c.90318A>C (TTN) XP_016860309.1:p.Ile30106=
XM_017004821.1:c.90315A>C (TTN) XP_016860310.1:p.Ile30105=
XM_017004822.1:c.87357A>C (TTN) XP_016860311.1:p.Ile29119=
XM_017004823.1:c.68973A>C (TTN) XP_016860312.1:p.Ile22991=
XM_024453094.1:c.90468A>C (TTN) XP_024308862.1:p.Ile30156=
XM_024453095.1:c.90465A>C (TTN) XP_024308863.1:p.Ile30155=
XM_024453096.1:c.89898A>C (TTN) XP_024308864.1:p.Ile29966=
XM_024453097.1:c.87240A>C (TTN) XP_024308865.1:p.Ile29080=
XM_024453098.1:c.87159A>C (TTN) XP_024308866.1:p.Ile29053=
XM_024453099.1:c.68922A>C (TTN) XP_024308867.1:p.Ile22974=
XM_024453100.1:c.58776A>C (TTN) XP_024308868.1:p.Ile19592=