Canonical Allele Identifier: CA430242427

Linked Data

MyVariant Identifiers: chr2:g.179411439A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546712A>C , CM000664.2:g.178546712A>C GRCh38
NC_000002.11:g.179411439A>C , CM000664.1:g.179411439A>C GRCh37
NC_000002.10:g.179119685A>C NCBI36
NG_011618.3:g.289091T>G , LRG_391:g.289091T>G
NG_051363.1:g.28886A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.87012T>G (TTN) ENSP00000343764.6:p.Thr29004=
ENST00000342175.11:c.68097T>G (TTN) ENSP00000340554.6:p.Thr22699=
ENST00000359218.10:c.67896T>G (TTN) ENSP00000352154.5:p.Thr22632=
ENST00000342175.10:c.68097T>G (TTN) ENSP00000340554.6:p.Thr22699=
ENST00000342992.10:c.87012T>G (TTN) ENSP00000343764.6:p.Thr29004=
ENST00000359218.9:c.67896T>G (TTN) ENSP00000352154.5:p.Thr22632=
ENST00000460472.6:c.67521T>G (TTN) ENSP00000434586.1:p.Thr22507=
ENST00000589042.5:c.94716T>G (TTN) MANE Select ENSP00000467141.1:p.Thr31572=
ENST00000591111.5:c.89793T>G (TTN) ENSP00000465570.1:p.Thr29931=
ENST00000615779.4:c.89793T>G (TTN) ENSP00000483597.1:p.Thr29931=
NM_001256850.1:c.89793T>G (TTN) NP_001243779.1:p.Thr29931=
NM_001267550.2:c.94716T>G (TTN) MANE Select NP_001254479.2:p.Thr31572=
NM_003319.4:c.67521T>G (TTN) NP_003310.4:p.Thr22507=
NM_133378.4:c.87012T>G (TTN) NP_596869.4:p.Thr29004=
NM_133432.3:c.67896T>G (TTN) NP_597676.3:p.Thr22632=
NM_133437.4:c.68097T>G (TTN) NP_597681.4:p.Thr22699=
NR_038271.1:n.446+23076A>C (TTN-AS1)
NR_038272.1:n.2043+4351A>C (TTN-AS1)
XM_011511729.1:c.93813T>G (TTN) XP_011510031.1:p.Thr31271=
XM_011511730.1:c.67707T>G (TTN) XP_011510032.1:p.Thr22569=
XM_011511731.1:c.67566T>G (TTN) XP_011510033.1:p.Thr22522=
XM_017004819.1:c.93609T>G (TTN) XP_016860308.1:p.Thr31203=
XM_017004820.1:c.89007T>G (TTN) XP_016860309.1:p.Thr29669=
XM_017004821.1:c.89004T>G (TTN) XP_016860310.1:p.Thr29668=
XM_017004822.1:c.86046T>G (TTN) XP_016860311.1:p.Thr28682=
XM_017004823.1:c.67662T>G (TTN) XP_016860312.1:p.Thr22554=
XM_024453094.1:c.89157T>G (TTN) XP_024308862.1:p.Thr29719=
XM_024453095.1:c.89154T>G (TTN) XP_024308863.1:p.Thr29718=
XM_024453096.1:c.88587T>G (TTN) XP_024308864.1:p.Thr29529=
XM_024453097.1:c.85929T>G (TTN) XP_024308865.1:p.Thr28643=
XM_024453098.1:c.85848T>G (TTN) XP_024308866.1:p.Thr28616=
XM_024453099.1:c.67611T>G (TTN) XP_024308867.1:p.Thr22537=
XM_024453100.1:c.57465T>G (TTN) XP_024308868.1:p.Thr19155=