Canonical Allele Identifier: CA430235129

Linked Data

MyVariant Identifiers: chr2:g.179395046A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530319A>C , CM000664.2:g.178530319A>C GRCh38
NC_000002.11:g.179395046A>C , CM000664.1:g.179395046A>C GRCh37
NC_000002.10:g.179103292A>C NCBI36
NG_011618.3:g.305484T>G , LRG_391:g.305484T>G
NG_051363.1:g.12493A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98592T>G (TTN) ENSP00000343764.6:p.Ser32864=
ENST00000342175.11:c.79677T>G (TTN) ENSP00000340554.6:p.Ser26559=
ENST00000359218.10:c.79476T>G (TTN) ENSP00000352154.5:p.Ser26492=
ENST00000342175.10:c.79677T>G (TTN) ENSP00000340554.6:p.Ser26559=
ENST00000342992.10:c.98592T>G (TTN) ENSP00000343764.6:p.Ser32864=
ENST00000359218.9:c.79476T>G (TTN) ENSP00000352154.5:p.Ser26492=
ENST00000460472.6:c.79101T>G (TTN) ENSP00000434586.1:p.Ser26367=
ENST00000589042.5:c.106296T>G (TTN) MANE Select ENSP00000467141.1:p.Ser35432=
ENST00000591111.5:c.101373T>G (TTN) ENSP00000465570.1:p.Ser33791=
ENST00000615779.4:c.101373T>G (TTN) ENSP00000483597.1:p.Ser33791=
NM_001256850.1:c.101373T>G (TTN) NP_001243779.1:p.Ser33791=
NM_001267550.2:c.106296T>G (TTN) MANE Select NP_001254479.2:p.Ser35432=
NM_003319.4:c.79101T>G (TTN) NP_003310.4:p.Ser26367=
NM_133378.4:c.98592T>G (TTN) NP_596869.4:p.Ser32864=
NM_133432.3:c.79476T>G (TTN) NP_597676.3:p.Ser26492=
NM_133437.4:c.79677T>G (TTN) NP_597681.4:p.Ser26559=
NR_038271.1:n.446+6683A>C (TTN-AS1)
NR_038272.1:n.220-5413A>C (TTN-AS1)
XM_011511729.1:c.105393T>G (TTN) XP_011510031.1:p.Ser35131=
XM_011511730.1:c.79287T>G (TTN) XP_011510032.1:p.Ser26429=
XM_011511731.1:c.79146T>G (TTN) XP_011510033.1:p.Ser26382=
XM_017004819.1:c.105189T>G (TTN) XP_016860308.1:p.Ser35063=
XM_017004820.1:c.100587T>G (TTN) XP_016860309.1:p.Ser33529=
XM_017004821.1:c.100584T>G (TTN) XP_016860310.1:p.Ser33528=
XM_017004822.1:c.97626T>G (TTN) XP_016860311.1:p.Ser32542=
XM_017004823.1:c.79242T>G (TTN) XP_016860312.1:p.Ser26414=
XM_024453094.1:c.100737T>G (TTN) XP_024308862.1:p.Ser33579=
XM_024453095.1:c.100734T>G (TTN) XP_024308863.1:p.Ser33578=
XM_024453096.1:c.100167T>G (TTN) XP_024308864.1:p.Ser33389=
XM_024453097.1:c.97509T>G (TTN) XP_024308865.1:p.Ser32503=
XM_024453098.1:c.97428T>G (TTN) XP_024308866.1:p.Ser32476=
XM_024453099.1:c.79191T>G (TTN) XP_024308867.1:p.Ser26397=
XM_024453100.1:c.69045T>G (TTN) XP_024308868.1:p.Ser23015=