Canonical Allele Identifier: CA430241385

Linked Data

MyVariant Identifiers: chr2:g.179408565G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543838G>A , CM000664.2:g.178543838G>A GRCh38
NC_000002.11:g.179408565G>A , CM000664.1:g.179408565G>A GRCh37
NC_000002.10:g.179116811G>A NCBI36
NG_011618.3:g.291965C>T , LRG_391:g.291965C>T
NG_051363.1:g.26012G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88602C>T (TTN) ENSP00000343764.6:p.Val29534=
ENST00000342175.11:c.69687C>T (TTN) ENSP00000340554.6:p.Val23229=
ENST00000359218.10:c.69486C>T (TTN) ENSP00000352154.5:p.Val23162=
ENST00000342175.10:c.69687C>T (TTN) ENSP00000340554.6:p.Val23229=
ENST00000342992.10:c.88602C>T (TTN) ENSP00000343764.6:p.Val29534=
ENST00000359218.9:c.69486C>T (TTN) ENSP00000352154.5:p.Val23162=
ENST00000460472.6:c.69111C>T (TTN) ENSP00000434586.1:p.Val23037=
ENST00000589042.5:c.96306C>T (TTN) MANE Select ENSP00000467141.1:p.Val32102=
ENST00000591111.5:c.91383C>T (TTN) ENSP00000465570.1:p.Val30461=
ENST00000615779.4:c.91383C>T (TTN) ENSP00000483597.1:p.Val30461=
NM_001256850.1:c.91383C>T (TTN) NP_001243779.1:p.Val30461=
NM_001267550.2:c.96306C>T (TTN) MANE Select NP_001254479.2:p.Val32102=
NM_003319.4:c.69111C>T (TTN) NP_003310.4:p.Val23037=
NM_133378.4:c.88602C>T (TTN) NP_596869.4:p.Val29534=
NM_133432.3:c.69486C>T (TTN) NP_597676.3:p.Val23162=
NM_133437.4:c.69687C>T (TTN) NP_597681.4:p.Val23229=
NR_038271.1:n.446+20202G>A (TTN-AS1)
NR_038272.1:n.2043+1477G>A (TTN-AS1)
XM_011511729.1:c.95403C>T (TTN) XP_011510031.1:p.Val31801=
XM_011511730.1:c.69297C>T (TTN) XP_011510032.1:p.Val23099=
XM_011511731.1:c.69156C>T (TTN) XP_011510033.1:p.Val23052=
XM_017004819.1:c.95199C>T (TTN) XP_016860308.1:p.Val31733=
XM_017004820.1:c.90597C>T (TTN) XP_016860309.1:p.Val30199=
XM_017004821.1:c.90594C>T (TTN) XP_016860310.1:p.Val30198=
XM_017004822.1:c.87636C>T (TTN) XP_016860311.1:p.Val29212=
XM_017004823.1:c.69252C>T (TTN) XP_016860312.1:p.Val23084=
XM_024453094.1:c.90747C>T (TTN) XP_024308862.1:p.Val30249=
XM_024453095.1:c.90744C>T (TTN) XP_024308863.1:p.Val30248=
XM_024453096.1:c.90177C>T (TTN) XP_024308864.1:p.Val30059=
XM_024453097.1:c.87519C>T (TTN) XP_024308865.1:p.Val29173=
XM_024453098.1:c.87438C>T (TTN) XP_024308866.1:p.Val29146=
XM_024453099.1:c.69201C>T (TTN) XP_024308867.1:p.Val23067=
XM_024453100.1:c.59055C>T (TTN) XP_024308868.1:p.Val19685=