Canonical Allele Identifier: CA430242531

Linked Data

MyVariant Identifiers: chr2:g.179411601G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546874G>T , CM000664.2:g.178546874G>T GRCh38
NC_000002.11:g.179411601G>T , CM000664.1:g.179411601G>T GRCh37
NC_000002.10:g.179119847G>T NCBI36
NG_011618.3:g.288929C>A , LRG_391:g.288929C>A
NG_051363.1:g.29048G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.86850C>A (TTN) ENSP00000343764.6:p.Val28950=
ENST00000342175.11:c.67935C>A (TTN) ENSP00000340554.6:p.Val22645=
ENST00000359218.10:c.67734C>A (TTN) ENSP00000352154.5:p.Val22578=
ENST00000342175.10:c.67935C>A (TTN) ENSP00000340554.6:p.Val22645=
ENST00000342992.10:c.86850C>A (TTN) ENSP00000343764.6:p.Val28950=
ENST00000359218.9:c.67734C>A (TTN) ENSP00000352154.5:p.Val22578=
ENST00000460472.6:c.67359C>A (TTN) ENSP00000434586.1:p.Val22453=
ENST00000589042.5:c.94554C>A (TTN) MANE Select ENSP00000467141.1:p.Val31518=
ENST00000591111.5:c.89631C>A (TTN) ENSP00000465570.1:p.Val29877=
ENST00000615779.4:c.89631C>A (TTN) ENSP00000483597.1:p.Val29877=
NM_001256850.1:c.89631C>A (TTN) NP_001243779.1:p.Val29877=
NM_001267550.2:c.94554C>A (TTN) MANE Select NP_001254479.2:p.Val31518=
NM_003319.4:c.67359C>A (TTN) NP_003310.4:p.Val22453=
NM_133378.4:c.86850C>A (TTN) NP_596869.4:p.Val28950=
NM_133432.3:c.67734C>A (TTN) NP_597676.3:p.Val22578=
NM_133437.4:c.67935C>A (TTN) NP_597681.4:p.Val22645=
NR_038271.1:n.446+23238G>T (TTN-AS1)
NR_038272.1:n.2043+4513G>T (TTN-AS1)
XM_011511729.1:c.93651C>A (TTN) XP_011510031.1:p.Val31217=
XM_011511730.1:c.67545C>A (TTN) XP_011510032.1:p.Val22515=
XM_011511731.1:c.67404C>A (TTN) XP_011510033.1:p.Val22468=
XM_017004819.1:c.93447C>A (TTN) XP_016860308.1:p.Val31149=
XM_017004820.1:c.88845C>A (TTN) XP_016860309.1:p.Val29615=
XM_017004821.1:c.88842C>A (TTN) XP_016860310.1:p.Val29614=
XM_017004822.1:c.85884C>A (TTN) XP_016860311.1:p.Val28628=
XM_017004823.1:c.67500C>A (TTN) XP_016860312.1:p.Val22500=
XM_024453094.1:c.88995C>A (TTN) XP_024308862.1:p.Val29665=
XM_024453095.1:c.88992C>A (TTN) XP_024308863.1:p.Val29664=
XM_024453096.1:c.88425C>A (TTN) XP_024308864.1:p.Val29475=
XM_024453097.1:c.85767C>A (TTN) XP_024308865.1:p.Val28589=
XM_024453098.1:c.85686C>A (TTN) XP_024308866.1:p.Val28562=
XM_024453099.1:c.67449C>A (TTN) XP_024308867.1:p.Val22483=
XM_024453100.1:c.57303C>A (TTN) XP_024308868.1:p.Val19101=