Canonical Allele Identifier: CA430235532

Linked Data

MyVariant Identifiers: chr2:g.179396603G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178531876G>A , CM000664.2:g.178531876G>A GRCh38
NC_000002.11:g.179396603G>A , CM000664.1:g.179396603G>A GRCh37
NC_000002.10:g.179104849G>A NCBI36
NG_011618.3:g.303927C>T , LRG_391:g.303927C>T
NG_051363.1:g.14050G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.97035C>T (TTN) ENSP00000343764.6:p.Ser32345=
ENST00000342175.11:c.78120C>T (TTN) ENSP00000340554.6:p.Ser26040=
ENST00000359218.10:c.77919C>T (TTN) ENSP00000352154.5:p.Ser25973=
ENST00000342175.10:c.78120C>T (TTN) ENSP00000340554.6:p.Ser26040=
ENST00000342992.10:c.97035C>T (TTN) ENSP00000343764.6:p.Ser32345=
ENST00000359218.9:c.77919C>T (TTN) ENSP00000352154.5:p.Ser25973=
ENST00000460472.6:c.77544C>T (TTN) ENSP00000434586.1:p.Ser25848=
ENST00000589042.5:c.104739C>T (TTN) MANE Select ENSP00000467141.1:p.Ser34913=
ENST00000591111.5:c.99816C>T (TTN) ENSP00000465570.1:p.Ser33272=
ENST00000615779.4:c.99816C>T (TTN) ENSP00000483597.1:p.Ser33272=
NM_001256850.1:c.99816C>T (TTN) NP_001243779.1:p.Ser33272=
NM_001267550.2:c.104739C>T (TTN) MANE Select NP_001254479.2:p.Ser34913=
NM_003319.4:c.77544C>T (TTN) NP_003310.4:p.Ser25848=
NM_133378.4:c.97035C>T (TTN) NP_596869.4:p.Ser32345=
NM_133432.3:c.77919C>T (TTN) NP_597676.3:p.Ser25973=
NM_133437.4:c.78120C>T (TTN) NP_597681.4:p.Ser26040=
NR_038271.1:n.446+8240G>A (TTN-AS1)
NR_038272.1:n.220-3856G>A (TTN-AS1)
XM_011511729.1:c.103836C>T (TTN) XP_011510031.1:p.Ser34612=
XM_011511730.1:c.77730C>T (TTN) XP_011510032.1:p.Ser25910=
XM_011511731.1:c.77589C>T (TTN) XP_011510033.1:p.Ser25863=
XM_017004819.1:c.103632C>T (TTN) XP_016860308.1:p.Ser34544=
XM_017004820.1:c.99030C>T (TTN) XP_016860309.1:p.Ser33010=
XM_017004821.1:c.99027C>T (TTN) XP_016860310.1:p.Ser33009=
XM_017004822.1:c.96069C>T (TTN) XP_016860311.1:p.Ser32023=
XM_017004823.1:c.77685C>T (TTN) XP_016860312.1:p.Ser25895=
XM_024453094.1:c.99180C>T (TTN) XP_024308862.1:p.Ser33060=
XM_024453095.1:c.99177C>T (TTN) XP_024308863.1:p.Ser33059=
XM_024453096.1:c.98610C>T (TTN) XP_024308864.1:p.Ser32870=
XM_024453097.1:c.95952C>T (TTN) XP_024308865.1:p.Ser31984=
XM_024453098.1:c.95871C>T (TTN) XP_024308866.1:p.Ser31957=
XM_024453099.1:c.77634C>T (TTN) XP_024308867.1:p.Ser25878=
XM_024453100.1:c.67488C>T (TTN) XP_024308868.1:p.Ser22496=