Canonical Allele Identifier: CA430242106

Linked Data

MyVariant Identifiers: chr2:g.179409190G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544463G>C , CM000664.2:g.178544463G>C GRCh38
NC_000002.11:g.179409190G>C , CM000664.1:g.179409190G>C GRCh37
NC_000002.10:g.179117436G>C NCBI36
NG_011618.3:g.291340C>G , LRG_391:g.291340C>G
NG_051363.1:g.26637G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88062C>G (TTN) ENSP00000343764.6:p.Thr29354=
ENST00000342175.11:c.69147C>G (TTN) ENSP00000340554.6:p.Thr23049=
ENST00000359218.10:c.68946C>G (TTN) ENSP00000352154.5:p.Thr22982=
ENST00000342175.10:c.69147C>G (TTN) ENSP00000340554.6:p.Thr23049=
ENST00000342992.10:c.88062C>G (TTN) ENSP00000343764.6:p.Thr29354=
ENST00000359218.9:c.68946C>G (TTN) ENSP00000352154.5:p.Thr22982=
ENST00000460472.6:c.68571C>G (TTN) ENSP00000434586.1:p.Thr22857=
ENST00000589042.5:c.95766C>G (TTN) MANE Select ENSP00000467141.1:p.Thr31922=
ENST00000591111.5:c.90843C>G (TTN) ENSP00000465570.1:p.Thr30281=
ENST00000615779.4:c.90843C>G (TTN) ENSP00000483597.1:p.Thr30281=
NM_001256850.1:c.90843C>G (TTN) NP_001243779.1:p.Thr30281=
NM_001267550.2:c.95766C>G (TTN) MANE Select NP_001254479.2:p.Thr31922=
NM_003319.4:c.68571C>G (TTN) NP_003310.4:p.Thr22857=
NM_133378.4:c.88062C>G (TTN) NP_596869.4:p.Thr29354=
NM_133432.3:c.68946C>G (TTN) NP_597676.3:p.Thr22982=
NM_133437.4:c.69147C>G (TTN) NP_597681.4:p.Thr23049=
NR_038271.1:n.446+20827G>C (TTN-AS1)
NR_038272.1:n.2043+2102G>C (TTN-AS1)
XM_011511729.1:c.94863C>G (TTN) XP_011510031.1:p.Thr31621=
XM_011511730.1:c.68757C>G (TTN) XP_011510032.1:p.Thr22919=
XM_011511731.1:c.68616C>G (TTN) XP_011510033.1:p.Thr22872=
XM_017004819.1:c.94659C>G (TTN) XP_016860308.1:p.Thr31553=
XM_017004820.1:c.90057C>G (TTN) XP_016860309.1:p.Thr30019=
XM_017004821.1:c.90054C>G (TTN) XP_016860310.1:p.Thr30018=
XM_017004822.1:c.87096C>G (TTN) XP_016860311.1:p.Thr29032=
XM_017004823.1:c.68712C>G (TTN) XP_016860312.1:p.Thr22904=
XM_024453094.1:c.90207C>G (TTN) XP_024308862.1:p.Thr30069=
XM_024453095.1:c.90204C>G (TTN) XP_024308863.1:p.Thr30068=
XM_024453096.1:c.89637C>G (TTN) XP_024308864.1:p.Thr29879=
XM_024453097.1:c.86979C>G (TTN) XP_024308865.1:p.Thr28993=
XM_024453098.1:c.86898C>G (TTN) XP_024308866.1:p.Thr28966=
XM_024453099.1:c.68661C>G (TTN) XP_024308867.1:p.Thr22887=
XM_024453100.1:c.58515C>G (TTN) XP_024308868.1:p.Thr19505=