Canonical Allele Identifier: CA430091475

Linked Data

MyVariant Identifiers: chr2:g.179391772A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527045A>G , CM000664.2:g.178527045A>G GRCh38
NC_000002.11:g.179391772A>G , CM000664.1:g.179391772A>G GRCh37
NC_000002.10:g.179100018A>G NCBI36
NG_011618.3:g.308758T>C , LRG_391:g.308758T>C
NG_051363.1:g.9219A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.100239T>C (TTN) ENSP00000343764.6:p.Ser33413=
ENST00000342175.11:c.81324T>C (TTN) ENSP00000340554.6:p.Ser27108=
ENST00000359218.10:c.81123T>C (TTN) ENSP00000352154.5:p.Ser27041=
ENST00000342175.10:c.81324T>C (TTN) ENSP00000340554.6:p.Ser27108=
ENST00000342992.10:c.100239T>C (TTN) ENSP00000343764.6:p.Ser33413=
ENST00000359218.9:c.81123T>C (TTN) ENSP00000352154.5:p.Ser27041=
ENST00000460472.6:c.80748T>C (TTN) ENSP00000434586.1:p.Ser26916=
ENST00000589042.5:c.107943T>C (TTN) MANE Select ENSP00000467141.1:p.Ser35981=
ENST00000591111.5:c.103020T>C (TTN) ENSP00000465570.1:p.Ser34340=
ENST00000615779.4:c.103020T>C (TTN) ENSP00000483597.1:p.Ser34340=
NM_001256850.1:c.103020T>C (TTN) NP_001243779.1:p.Ser34340=
NM_001267550.2:c.107943T>C (TTN) MANE Select NP_001254479.2:p.Ser35981=
NM_003319.4:c.80748T>C (TTN) NP_003310.4:p.Ser26916=
NM_133378.4:c.100239T>C (TTN) NP_596869.4:p.Ser33413=
NM_133432.3:c.81123T>C (TTN) NP_597676.3:p.Ser27041=
NM_133437.4:c.81324T>C (TTN) NP_597681.4:p.Ser27108=
NR_038271.1:n.446+3409A>G (TTN-AS1)
NR_038272.1:n.219+3409A>G (TTN-AS1)
XM_011511729.1:c.107040T>C (TTN) XP_011510031.1:p.Ser35680=
XM_011511730.1:c.80934T>C (TTN) XP_011510032.1:p.Ser26978=
XM_011511731.1:c.80793T>C (TTN) XP_011510033.1:p.Ser26931=
XM_017004819.1:c.106836T>C (TTN) XP_016860308.1:p.Ser35612=
XM_017004820.1:c.102234T>C (TTN) XP_016860309.1:p.Ser34078=
XM_017004821.1:c.102231T>C (TTN) XP_016860310.1:p.Ser34077=
XM_017004822.1:c.99273T>C (TTN) XP_016860311.1:p.Ser33091=
XM_017004823.1:c.80889T>C (TTN) XP_016860312.1:p.Ser26963=
XM_024453094.1:c.102384T>C (TTN) XP_024308862.1:p.Ser34128=
XM_024453095.1:c.102381T>C (TTN) XP_024308863.1:p.Ser34127=
XM_024453096.1:c.101814T>C (TTN) XP_024308864.1:p.Ser33938=
XM_024453097.1:c.99156T>C (TTN) XP_024308865.1:p.Ser33052=
XM_024453098.1:c.99075T>C (TTN) XP_024308866.1:p.Ser33025=
XM_024453099.1:c.80838T>C (TTN) XP_024308867.1:p.Ser26946=
XM_024453100.1:c.70692T>C (TTN) XP_024308868.1:p.Ser23564=