Canonical Allele Identifier: CA430267376

Linked Data

MyVariant Identifiers: chr2:g.179457952A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178593225A>G , CM000664.2:g.178593225A>G GRCh38
NC_000002.11:g.179457952A>G , CM000664.1:g.179457952A>G GRCh37
NC_000002.10:g.179166198A>G NCBI36
NG_011618.3:g.242578T>C , LRG_391:g.242578T>C
NG_051363.1:g.75399A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.51279T>C (TTN) ENSP00000343764.6:p.Gly17093=
ENST00000342175.11:c.32364T>C (TTN) ENSP00000340554.6:p.Gly10788=
ENST00000359218.10:c.32163T>C (TTN) ENSP00000352154.5:p.Gly10721=
ENST00000342175.10:c.32364T>C (TTN) ENSP00000340554.6:p.Gly10788=
ENST00000342992.10:c.51279T>C (TTN) ENSP00000343764.6:p.Gly17093=
ENST00000359218.9:c.32163T>C (TTN) ENSP00000352154.5:p.Gly10721=
ENST00000460472.6:c.31788T>C (TTN) ENSP00000434586.1:p.Gly10596=
ENST00000589042.5:c.58983T>C (TTN) MANE Select ENSP00000467141.1:p.Gly19661=
ENST00000591111.5:c.54060T>C (TTN) ENSP00000465570.1:p.Gly18020=
ENST00000615779.4:c.54060T>C (TTN) ENSP00000483597.1:p.Gly18020=
NM_001256850.1:c.54060T>C (TTN) NP_001243779.1:p.Gly18020=
NM_001267550.2:c.58983T>C (TTN) MANE Select NP_001254479.2:p.Gly19661=
NM_003319.4:c.31788T>C (TTN) NP_003310.4:p.Gly10596=
NM_133378.4:c.51279T>C (TTN) NP_596869.4:p.Gly17093=
NM_133432.3:c.32163T>C (TTN) NP_597676.3:p.Gly10721=
NM_133437.4:c.32364T>C (TTN) NP_597681.4:p.Gly10788=
NR_038271.1:n.597-4371A>G (TTN-AS1)
NR_038272.1:n.3364+1911A>G (TTN-AS1)
XM_011511729.1:c.58080T>C (TTN) XP_011510031.1:p.Gly19360=
XM_011511730.1:c.31974T>C (TTN) XP_011510032.1:p.Gly10658=
XM_011511731.1:c.31833T>C (TTN) XP_011510033.1:p.Gly10611=
XM_017004819.1:c.57876T>C (TTN) XP_016860308.1:p.Gly19292=
XM_017004820.1:c.53274T>C (TTN) XP_016860309.1:p.Gly17758=
XM_017004821.1:c.53271T>C (TTN) XP_016860310.1:p.Gly17757=
XM_017004822.1:c.50313T>C (TTN) XP_016860311.1:p.Gly16771=
XM_017004823.1:c.31929T>C (TTN) XP_016860312.1:p.Gly10643=
XM_024453094.1:c.53424T>C (TTN) XP_024308862.1:p.Gly17808=
XM_024453095.1:c.53421T>C (TTN) XP_024308863.1:p.Gly17807=
XM_024453096.1:c.52854T>C (TTN) XP_024308864.1:p.Gly17618=
XM_024453097.1:c.50196T>C (TTN) XP_024308865.1:p.Gly16732=
XM_024453098.1:c.50115T>C (TTN) XP_024308866.1:p.Gly16705=
XM_024453099.1:c.31878T>C (TTN) XP_024308867.1:p.Gly10626=
XM_024453100.1:c.21732T>C (TTN) XP_024308868.1:p.Gly7244=