Canonical Allele Identifier: CA430093992

Linked Data

MyVariant Identifiers: chr2:g.179394811A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530084A>C , CM000664.2:g.178530084A>C GRCh38
NC_000002.11:g.179394811A>C , CM000664.1:g.179394811A>C GRCh37
NC_000002.10:g.179103057A>C NCBI36
NG_011618.3:g.305719T>G , LRG_391:g.305719T>G
NG_051363.1:g.12258A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98703T>G (TTN) ENSP00000343764.6:p.Ser32901=
ENST00000342175.11:c.79788T>G (TTN) ENSP00000340554.6:p.Ser26596=
ENST00000359218.10:c.79587T>G (TTN) ENSP00000352154.5:p.Ser26529=
ENST00000342175.10:c.79788T>G (TTN) ENSP00000340554.6:p.Ser26596=
ENST00000342992.10:c.98703T>G (TTN) ENSP00000343764.6:p.Ser32901=
ENST00000359218.9:c.79587T>G (TTN) ENSP00000352154.5:p.Ser26529=
ENST00000460472.6:c.79212T>G (TTN) ENSP00000434586.1:p.Ser26404=
ENST00000589042.5:c.106407T>G (TTN) MANE Select ENSP00000467141.1:p.Ser35469=
ENST00000591111.5:c.101484T>G (TTN) ENSP00000465570.1:p.Ser33828=
ENST00000615779.4:c.101484T>G (TTN) ENSP00000483597.1:p.Ser33828=
NM_001256850.1:c.101484T>G (TTN) NP_001243779.1:p.Ser33828=
NM_001267550.2:c.106407T>G (TTN) MANE Select NP_001254479.2:p.Ser35469=
NM_003319.4:c.79212T>G (TTN) NP_003310.4:p.Ser26404=
NM_133378.4:c.98703T>G (TTN) NP_596869.4:p.Ser32901=
NM_133432.3:c.79587T>G (TTN) NP_597676.3:p.Ser26529=
NM_133437.4:c.79788T>G (TTN) NP_597681.4:p.Ser26596=
NR_038271.1:n.446+6448A>C (TTN-AS1)
NR_038272.1:n.220-5648A>C (TTN-AS1)
XM_011511729.1:c.105504T>G (TTN) XP_011510031.1:p.Ser35168=
XM_011511730.1:c.79398T>G (TTN) XP_011510032.1:p.Ser26466=
XM_011511731.1:c.79257T>G (TTN) XP_011510033.1:p.Ser26419=
XM_017004819.1:c.105300T>G (TTN) XP_016860308.1:p.Ser35100=
XM_017004820.1:c.100698T>G (TTN) XP_016860309.1:p.Ser33566=
XM_017004821.1:c.100695T>G (TTN) XP_016860310.1:p.Ser33565=
XM_017004822.1:c.97737T>G (TTN) XP_016860311.1:p.Ser32579=
XM_017004823.1:c.79353T>G (TTN) XP_016860312.1:p.Ser26451=
XM_024453094.1:c.100848T>G (TTN) XP_024308862.1:p.Ser33616=
XM_024453095.1:c.100845T>G (TTN) XP_024308863.1:p.Ser33615=
XM_024453096.1:c.100278T>G (TTN) XP_024308864.1:p.Ser33426=
XM_024453097.1:c.97620T>G (TTN) XP_024308865.1:p.Ser32540=
XM_024453098.1:c.97539T>G (TTN) XP_024308866.1:p.Ser32513=
XM_024453099.1:c.79302T>G (TTN) XP_024308867.1:p.Ser26434=
XM_024453100.1:c.69156T>G (TTN) XP_024308868.1:p.Ser23052=