Canonical Allele Identifier: CA430259657

Linked Data

MyVariant Identifiers: chr2:g.179442719T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178577992T>G , CM000664.2:g.178577992T>G GRCh38
NC_000002.11:g.179442719T>G , CM000664.1:g.179442719T>G GRCh37
NC_000002.10:g.179150965T>G NCBI36
NG_011618.3:g.257811A>C , LRG_391:g.257811A>C
NG_051363.1:g.60166T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.60819A>C (TTN) ENSP00000343764.6:p.Pro20273=
ENST00000342175.11:c.41904A>C (TTN) ENSP00000340554.6:p.Pro13968=
ENST00000359218.10:c.41703A>C (TTN) ENSP00000352154.5:p.Pro13901=
ENST00000342175.10:c.41904A>C (TTN) ENSP00000340554.6:p.Pro13968=
ENST00000342992.10:c.60819A>C (TTN) ENSP00000343764.6:p.Pro20273=
ENST00000359218.9:c.41703A>C (TTN) ENSP00000352154.5:p.Pro13901=
ENST00000460472.6:c.41328A>C (TTN) ENSP00000434586.1:p.Pro13776=
ENST00000589042.5:c.68523A>C (TTN) MANE Select ENSP00000467141.1:p.Pro22841=
ENST00000591111.5:c.63600A>C (TTN) ENSP00000465570.1:p.Pro21200=
ENST00000615779.4:c.63600A>C (TTN) ENSP00000483597.1:p.Pro21200=
NM_001256850.1:c.63600A>C (TTN) NP_001243779.1:p.Pro21200=
NM_001267550.2:c.68523A>C (TTN) MANE Select NP_001254479.2:p.Pro22841=
NM_003319.4:c.41328A>C (TTN) NP_003310.4:p.Pro13776=
NM_133378.4:c.60819A>C (TTN) NP_596869.4:p.Pro20273=
NM_133432.3:c.41703A>C (TTN) NP_597676.3:p.Pro13901=
NM_133437.4:c.41904A>C (TTN) NP_597681.4:p.Pro13968=
NR_038271.1:n.596+6543T>G (TTN-AS1)
NR_038272.1:n.2044-4580T>G (TTN-AS1)
XM_011511729.1:c.67620A>C (TTN) XP_011510031.1:p.Pro22540=
XM_011511730.1:c.41514A>C (TTN) XP_011510032.1:p.Pro13838=
XM_011511731.1:c.41373A>C (TTN) XP_011510033.1:p.Pro13791=
XM_017004819.1:c.67416A>C (TTN) XP_016860308.1:p.Pro22472=
XM_017004820.1:c.62814A>C (TTN) XP_016860309.1:p.Pro20938=
XM_017004821.1:c.62811A>C (TTN) XP_016860310.1:p.Pro20937=
XM_017004822.1:c.59853A>C (TTN) XP_016860311.1:p.Pro19951=
XM_017004823.1:c.41469A>C (TTN) XP_016860312.1:p.Pro13823=
XM_024453094.1:c.62964A>C (TTN) XP_024308862.1:p.Pro20988=
XM_024453095.1:c.62961A>C (TTN) XP_024308863.1:p.Pro20987=
XM_024453096.1:c.62394A>C (TTN) XP_024308864.1:p.Pro20798=
XM_024453097.1:c.59736A>C (TTN) XP_024308865.1:p.Pro19912=
XM_024453098.1:c.59655A>C (TTN) XP_024308866.1:p.Pro19885=
XM_024453099.1:c.41418A>C (TTN) XP_024308867.1:p.Pro13806=
XM_024453100.1:c.31272A>C (TTN) XP_024308868.1:p.Pro10424=