Canonical Allele Identifier: CA430241631

Linked Data

MyVariant Identifiers: chr2:g.179408938C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544211C>A , CM000664.2:g.178544211C>A GRCh38
NC_000002.11:g.179408938C>A , CM000664.1:g.179408938C>A GRCh37
NC_000002.10:g.179117184C>A NCBI36
NG_011618.3:g.291592G>T , LRG_391:g.291592G>T
NG_051363.1:g.26385C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88314G>T (TTN) ENSP00000343764.6:p.Val29438=
ENST00000342175.11:c.69399G>T (TTN) ENSP00000340554.6:p.Val23133=
ENST00000359218.10:c.69198G>T (TTN) ENSP00000352154.5:p.Val23066=
ENST00000342175.10:c.69399G>T (TTN) ENSP00000340554.6:p.Val23133=
ENST00000342992.10:c.88314G>T (TTN) ENSP00000343764.6:p.Val29438=
ENST00000359218.9:c.69198G>T (TTN) ENSP00000352154.5:p.Val23066=
ENST00000460472.6:c.68823G>T (TTN) ENSP00000434586.1:p.Val22941=
ENST00000589042.5:c.96018G>T (TTN) MANE Select ENSP00000467141.1:p.Val32006=
ENST00000591111.5:c.91095G>T (TTN) ENSP00000465570.1:p.Val30365=
ENST00000615779.4:c.91095G>T (TTN) ENSP00000483597.1:p.Val30365=
NM_001256850.1:c.91095G>T (TTN) NP_001243779.1:p.Val30365=
NM_001267550.2:c.96018G>T (TTN) MANE Select NP_001254479.2:p.Val32006=
NM_003319.4:c.68823G>T (TTN) NP_003310.4:p.Val22941=
NM_133378.4:c.88314G>T (TTN) NP_596869.4:p.Val29438=
NM_133432.3:c.69198G>T (TTN) NP_597676.3:p.Val23066=
NM_133437.4:c.69399G>T (TTN) NP_597681.4:p.Val23133=
NR_038271.1:n.446+20575C>A (TTN-AS1)
NR_038272.1:n.2043+1850C>A (TTN-AS1)
XM_011511729.1:c.95115G>T (TTN) XP_011510031.1:p.Val31705=
XM_011511730.1:c.69009G>T (TTN) XP_011510032.1:p.Val23003=
XM_011511731.1:c.68868G>T (TTN) XP_011510033.1:p.Val22956=
XM_017004819.1:c.94911G>T (TTN) XP_016860308.1:p.Val31637=
XM_017004820.1:c.90309G>T (TTN) XP_016860309.1:p.Val30103=
XM_017004821.1:c.90306G>T (TTN) XP_016860310.1:p.Val30102=
XM_017004822.1:c.87348G>T (TTN) XP_016860311.1:p.Val29116=
XM_017004823.1:c.68964G>T (TTN) XP_016860312.1:p.Val22988=
XM_024453094.1:c.90459G>T (TTN) XP_024308862.1:p.Val30153=
XM_024453095.1:c.90456G>T (TTN) XP_024308863.1:p.Val30152=
XM_024453096.1:c.89889G>T (TTN) XP_024308864.1:p.Val29963=
XM_024453097.1:c.87231G>T (TTN) XP_024308865.1:p.Val29077=
XM_024453098.1:c.87150G>T (TTN) XP_024308866.1:p.Val29050=
XM_024453099.1:c.68913G>T (TTN) XP_024308867.1:p.Val22971=
XM_024453100.1:c.58767G>T (TTN) XP_024308868.1:p.Val19589=