Canonical Allele Identifier: CA430267369

Linked Data

MyVariant Identifiers: chr2:g.179457946T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178593219T>C , CM000664.2:g.178593219T>C GRCh38
NC_000002.11:g.179457946T>C , CM000664.1:g.179457946T>C GRCh37
NC_000002.10:g.179166192T>C NCBI36
NG_011618.3:g.242584A>G , LRG_391:g.242584A>G
NG_051363.1:g.75393T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.51285A>G (TTN) ENSP00000343764.6:p.Gly17095=
ENST00000342175.11:c.32370A>G (TTN) ENSP00000340554.6:p.Gly10790=
ENST00000359218.10:c.32169A>G (TTN) ENSP00000352154.5:p.Gly10723=
ENST00000342175.10:c.32370A>G (TTN) ENSP00000340554.6:p.Gly10790=
ENST00000342992.10:c.51285A>G (TTN) ENSP00000343764.6:p.Gly17095=
ENST00000359218.9:c.32169A>G (TTN) ENSP00000352154.5:p.Gly10723=
ENST00000460472.6:c.31794A>G (TTN) ENSP00000434586.1:p.Gly10598=
ENST00000589042.5:c.58989A>G (TTN) MANE Select ENSP00000467141.1:p.Gly19663=
ENST00000591111.5:c.54066A>G (TTN) ENSP00000465570.1:p.Gly18022=
ENST00000615779.4:c.54066A>G (TTN) ENSP00000483597.1:p.Gly18022=
NM_001256850.1:c.54066A>G (TTN) NP_001243779.1:p.Gly18022=
NM_001267550.2:c.58989A>G (TTN) MANE Select NP_001254479.2:p.Gly19663=
NM_003319.4:c.31794A>G (TTN) NP_003310.4:p.Gly10598=
NM_133378.4:c.51285A>G (TTN) NP_596869.4:p.Gly17095=
NM_133432.3:c.32169A>G (TTN) NP_597676.3:p.Gly10723=
NM_133437.4:c.32370A>G (TTN) NP_597681.4:p.Gly10790=
NR_038271.1:n.597-4377T>C (TTN-AS1)
NR_038272.1:n.3364+1905T>C (TTN-AS1)
XM_011511729.1:c.58086A>G (TTN) XP_011510031.1:p.Gly19362=
XM_011511730.1:c.31980A>G (TTN) XP_011510032.1:p.Gly10660=
XM_011511731.1:c.31839A>G (TTN) XP_011510033.1:p.Gly10613=
XM_017004819.1:c.57882A>G (TTN) XP_016860308.1:p.Gly19294=
XM_017004820.1:c.53280A>G (TTN) XP_016860309.1:p.Gly17760=
XM_017004821.1:c.53277A>G (TTN) XP_016860310.1:p.Gly17759=
XM_017004822.1:c.50319A>G (TTN) XP_016860311.1:p.Gly16773=
XM_017004823.1:c.31935A>G (TTN) XP_016860312.1:p.Gly10645=
XM_024453094.1:c.53430A>G (TTN) XP_024308862.1:p.Gly17810=
XM_024453095.1:c.53427A>G (TTN) XP_024308863.1:p.Gly17809=
XM_024453096.1:c.52860A>G (TTN) XP_024308864.1:p.Gly17620=
XM_024453097.1:c.50202A>G (TTN) XP_024308865.1:p.Gly16734=
XM_024453098.1:c.50121A>G (TTN) XP_024308866.1:p.Gly16707=
XM_024453099.1:c.31884A>G (TTN) XP_024308867.1:p.Gly10628=
XM_024453100.1:c.21738A>G (TTN) XP_024308868.1:p.Gly7246=