Canonical Allele Identifier: CA430093965

Linked Data

MyVariant Identifiers: chr2:g.179394805G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530078G>A , CM000664.2:g.178530078G>A GRCh38
NC_000002.11:g.179394805G>A , CM000664.1:g.179394805G>A GRCh37
NC_000002.10:g.179103051G>A NCBI36
NG_011618.3:g.305725C>T , LRG_391:g.305725C>T
NG_051363.1:g.12252G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98709C>T (TTN) ENSP00000343764.6:p.Asp32903=
ENST00000342175.11:c.79794C>T (TTN) ENSP00000340554.6:p.Asp26598=
ENST00000359218.10:c.79593C>T (TTN) ENSP00000352154.5:p.Asp26531=
ENST00000342175.10:c.79794C>T (TTN) ENSP00000340554.6:p.Asp26598=
ENST00000342992.10:c.98709C>T (TTN) ENSP00000343764.6:p.Asp32903=
ENST00000359218.9:c.79593C>T (TTN) ENSP00000352154.5:p.Asp26531=
ENST00000460472.6:c.79218C>T (TTN) ENSP00000434586.1:p.Asp26406=
ENST00000589042.5:c.106413C>T (TTN) MANE Select ENSP00000467141.1:p.Asp35471=
ENST00000591111.5:c.101490C>T (TTN) ENSP00000465570.1:p.Asp33830=
ENST00000615779.4:c.101490C>T (TTN) ENSP00000483597.1:p.Asp33830=
NM_001256850.1:c.101490C>T (TTN) NP_001243779.1:p.Asp33830=
NM_001267550.2:c.106413C>T (TTN) MANE Select NP_001254479.2:p.Asp35471=
NM_003319.4:c.79218C>T (TTN) NP_003310.4:p.Asp26406=
NM_133378.4:c.98709C>T (TTN) NP_596869.4:p.Asp32903=
NM_133432.3:c.79593C>T (TTN) NP_597676.3:p.Asp26531=
NM_133437.4:c.79794C>T (TTN) NP_597681.4:p.Asp26598=
NR_038271.1:n.446+6442G>A (TTN-AS1)
NR_038272.1:n.220-5654G>A (TTN-AS1)
XM_011511729.1:c.105510C>T (TTN) XP_011510031.1:p.Asp35170=
XM_011511730.1:c.79404C>T (TTN) XP_011510032.1:p.Asp26468=
XM_011511731.1:c.79263C>T (TTN) XP_011510033.1:p.Asp26421=
XM_017004819.1:c.105306C>T (TTN) XP_016860308.1:p.Asp35102=
XM_017004820.1:c.100704C>T (TTN) XP_016860309.1:p.Asp33568=
XM_017004821.1:c.100701C>T (TTN) XP_016860310.1:p.Asp33567=
XM_017004822.1:c.97743C>T (TTN) XP_016860311.1:p.Asp32581=
XM_017004823.1:c.79359C>T (TTN) XP_016860312.1:p.Asp26453=
XM_024453094.1:c.100854C>T (TTN) XP_024308862.1:p.Asp33618=
XM_024453095.1:c.100851C>T (TTN) XP_024308863.1:p.Asp33617=
XM_024453096.1:c.100284C>T (TTN) XP_024308864.1:p.Asp33428=
XM_024453097.1:c.97626C>T (TTN) XP_024308865.1:p.Asp32542=
XM_024453098.1:c.97545C>T (TTN) XP_024308866.1:p.Asp32515=
XM_024453099.1:c.79308C>T (TTN) XP_024308867.1:p.Asp26436=
XM_024453100.1:c.69162C>T (TTN) XP_024308868.1:p.Asp23054=