Canonical Allele Identifier: CA430093824

Linked Data

MyVariant Identifiers: chr2:g.179394760G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530033G>A , CM000664.2:g.178530033G>A GRCh38
NC_000002.11:g.179394760G>A , CM000664.1:g.179394760G>A GRCh37
NC_000002.10:g.179103006G>A NCBI36
NG_011618.3:g.305770C>T , LRG_391:g.305770C>T
NG_051363.1:g.12207G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98754C>T (TTN) ENSP00000343764.6:p.Asp32918=
ENST00000342175.11:c.79839C>T (TTN) ENSP00000340554.6:p.Asp26613=
ENST00000359218.10:c.79638C>T (TTN) ENSP00000352154.5:p.Asp26546=
ENST00000342175.10:c.79839C>T (TTN) ENSP00000340554.6:p.Asp26613=
ENST00000342992.10:c.98754C>T (TTN) ENSP00000343764.6:p.Asp32918=
ENST00000359218.9:c.79638C>T (TTN) ENSP00000352154.5:p.Asp26546=
ENST00000460472.6:c.79263C>T (TTN) ENSP00000434586.1:p.Asp26421=
ENST00000589042.5:c.106458C>T (TTN) MANE Select ENSP00000467141.1:p.Asp35486=
ENST00000591111.5:c.101535C>T (TTN) ENSP00000465570.1:p.Asp33845=
ENST00000615779.4:c.101535C>T (TTN) ENSP00000483597.1:p.Asp33845=
NM_001256850.1:c.101535C>T (TTN) NP_001243779.1:p.Asp33845=
NM_001267550.2:c.106458C>T (TTN) MANE Select NP_001254479.2:p.Asp35486=
NM_003319.4:c.79263C>T (TTN) NP_003310.4:p.Asp26421=
NM_133378.4:c.98754C>T (TTN) NP_596869.4:p.Asp32918=
NM_133432.3:c.79638C>T (TTN) NP_597676.3:p.Asp26546=
NM_133437.4:c.79839C>T (TTN) NP_597681.4:p.Asp26613=
NR_038271.1:n.446+6397G>A (TTN-AS1)
NR_038272.1:n.220-5699G>A (TTN-AS1)
XM_011511729.1:c.105555C>T (TTN) XP_011510031.1:p.Asp35185=
XM_011511730.1:c.79449C>T (TTN) XP_011510032.1:p.Asp26483=
XM_011511731.1:c.79308C>T (TTN) XP_011510033.1:p.Asp26436=
XM_017004819.1:c.105351C>T (TTN) XP_016860308.1:p.Asp35117=
XM_017004820.1:c.100749C>T (TTN) XP_016860309.1:p.Asp33583=
XM_017004821.1:c.100746C>T (TTN) XP_016860310.1:p.Asp33582=
XM_017004822.1:c.97788C>T (TTN) XP_016860311.1:p.Asp32596=
XM_017004823.1:c.79404C>T (TTN) XP_016860312.1:p.Asp26468=
XM_024453094.1:c.100899C>T (TTN) XP_024308862.1:p.Asp33633=
XM_024453095.1:c.100896C>T (TTN) XP_024308863.1:p.Asp33632=
XM_024453096.1:c.100329C>T (TTN) XP_024308864.1:p.Asp33443=
XM_024453097.1:c.97671C>T (TTN) XP_024308865.1:p.Asp32557=
XM_024453098.1:c.97590C>T (TTN) XP_024308866.1:p.Asp32530=
XM_024453099.1:c.79353C>T (TTN) XP_024308867.1:p.Asp26451=
XM_024453100.1:c.69207C>T (TTN) XP_024308868.1:p.Asp23069=