Canonical Allele Identifier: CA430241984

Linked Data

MyVariant Identifiers: chr2:g.179409148A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544421A>G , CM000664.2:g.178544421A>G GRCh38
NC_000002.11:g.179409148A>G , CM000664.1:g.179409148A>G GRCh37
NC_000002.10:g.179117394A>G NCBI36
NG_011618.3:g.291382T>C , LRG_391:g.291382T>C
NG_051363.1:g.26595A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88104T>C (TTN) ENSP00000343764.6:p.Asp29368=
ENST00000342175.11:c.69189T>C (TTN) ENSP00000340554.6:p.Asp23063=
ENST00000359218.10:c.68988T>C (TTN) ENSP00000352154.5:p.Asp22996=
ENST00000342175.10:c.69189T>C (TTN) ENSP00000340554.6:p.Asp23063=
ENST00000342992.10:c.88104T>C (TTN) ENSP00000343764.6:p.Asp29368=
ENST00000359218.9:c.68988T>C (TTN) ENSP00000352154.5:p.Asp22996=
ENST00000460472.6:c.68613T>C (TTN) ENSP00000434586.1:p.Asp22871=
ENST00000589042.5:c.95808T>C (TTN) MANE Select ENSP00000467141.1:p.Asp31936=
ENST00000591111.5:c.90885T>C (TTN) ENSP00000465570.1:p.Asp30295=
ENST00000615779.4:c.90885T>C (TTN) ENSP00000483597.1:p.Asp30295=
NM_001256850.1:c.90885T>C (TTN) NP_001243779.1:p.Asp30295=
NM_001267550.2:c.95808T>C (TTN) MANE Select NP_001254479.2:p.Asp31936=
NM_003319.4:c.68613T>C (TTN) NP_003310.4:p.Asp22871=
NM_133378.4:c.88104T>C (TTN) NP_596869.4:p.Asp29368=
NM_133432.3:c.68988T>C (TTN) NP_597676.3:p.Asp22996=
NM_133437.4:c.69189T>C (TTN) NP_597681.4:p.Asp23063=
NR_038271.1:n.446+20785A>G (TTN-AS1)
NR_038272.1:n.2043+2060A>G (TTN-AS1)
XM_011511729.1:c.94905T>C (TTN) XP_011510031.1:p.Asp31635=
XM_011511730.1:c.68799T>C (TTN) XP_011510032.1:p.Asp22933=
XM_011511731.1:c.68658T>C (TTN) XP_011510033.1:p.Asp22886=
XM_017004819.1:c.94701T>C (TTN) XP_016860308.1:p.Asp31567=
XM_017004820.1:c.90099T>C (TTN) XP_016860309.1:p.Asp30033=
XM_017004821.1:c.90096T>C (TTN) XP_016860310.1:p.Asp30032=
XM_017004822.1:c.87138T>C (TTN) XP_016860311.1:p.Asp29046=
XM_017004823.1:c.68754T>C (TTN) XP_016860312.1:p.Asp22918=
XM_024453094.1:c.90249T>C (TTN) XP_024308862.1:p.Asp30083=
XM_024453095.1:c.90246T>C (TTN) XP_024308863.1:p.Asp30082=
XM_024453096.1:c.89679T>C (TTN) XP_024308864.1:p.Asp29893=
XM_024453097.1:c.87021T>C (TTN) XP_024308865.1:p.Asp29007=
XM_024453098.1:c.86940T>C (TTN) XP_024308866.1:p.Asp28980=
XM_024453099.1:c.68703T>C (TTN) XP_024308867.1:p.Asp22901=
XM_024453100.1:c.58557T>C (TTN) XP_024308868.1:p.Asp19519=