Canonical Allele Identifier: CA430242339

Linked Data

MyVariant Identifiers: chr2:g.179411346G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546619G>C , CM000664.2:g.178546619G>C GRCh38
NC_000002.11:g.179411346G>C , CM000664.1:g.179411346G>C GRCh37
NC_000002.10:g.179119592G>C NCBI36
NG_011618.3:g.289184C>G , LRG_391:g.289184C>G
NG_051363.1:g.28793G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.87105C>G (TTN) ENSP00000343764.6:p.Val29035=
ENST00000342175.11:c.68190C>G (TTN) ENSP00000340554.6:p.Val22730=
ENST00000359218.10:c.67989C>G (TTN) ENSP00000352154.5:p.Val22663=
ENST00000342175.10:c.68190C>G (TTN) ENSP00000340554.6:p.Val22730=
ENST00000342992.10:c.87105C>G (TTN) ENSP00000343764.6:p.Val29035=
ENST00000359218.9:c.67989C>G (TTN) ENSP00000352154.5:p.Val22663=
ENST00000460472.6:c.67614C>G (TTN) ENSP00000434586.1:p.Val22538=
ENST00000589042.5:c.94809C>G (TTN) MANE Select ENSP00000467141.1:p.Val31603=
ENST00000591111.5:c.89886C>G (TTN) ENSP00000465570.1:p.Val29962=
ENST00000615779.4:c.89886C>G (TTN) ENSP00000483597.1:p.Val29962=
NM_001256850.1:c.89886C>G (TTN) NP_001243779.1:p.Val29962=
NM_001267550.2:c.94809C>G (TTN) MANE Select NP_001254479.2:p.Val31603=
NM_003319.4:c.67614C>G (TTN) NP_003310.4:p.Val22538=
NM_133378.4:c.87105C>G (TTN) NP_596869.4:p.Val29035=
NM_133432.3:c.67989C>G (TTN) NP_597676.3:p.Val22663=
NM_133437.4:c.68190C>G (TTN) NP_597681.4:p.Val22730=
NR_038271.1:n.446+22983G>C (TTN-AS1)
NR_038272.1:n.2043+4258G>C (TTN-AS1)
XM_011511729.1:c.93906C>G (TTN) XP_011510031.1:p.Val31302=
XM_011511730.1:c.67800C>G (TTN) XP_011510032.1:p.Val22600=
XM_011511731.1:c.67659C>G (TTN) XP_011510033.1:p.Val22553=
XM_017004819.1:c.93702C>G (TTN) XP_016860308.1:p.Val31234=
XM_017004820.1:c.89100C>G (TTN) XP_016860309.1:p.Val29700=
XM_017004821.1:c.89097C>G (TTN) XP_016860310.1:p.Val29699=
XM_017004822.1:c.86139C>G (TTN) XP_016860311.1:p.Val28713=
XM_017004823.1:c.67755C>G (TTN) XP_016860312.1:p.Val22585=
XM_024453094.1:c.89250C>G (TTN) XP_024308862.1:p.Val29750=
XM_024453095.1:c.89247C>G (TTN) XP_024308863.1:p.Val29749=
XM_024453096.1:c.88680C>G (TTN) XP_024308864.1:p.Val29560=
XM_024453097.1:c.86022C>G (TTN) XP_024308865.1:p.Val28674=
XM_024453098.1:c.85941C>G (TTN) XP_024308866.1:p.Val28647=
XM_024453099.1:c.67704C>G (TTN) XP_024308867.1:p.Val22568=
XM_024453100.1:c.57558C>G (TTN) XP_024308868.1:p.Val19186=