Canonical Allele Identifier: CA430242447

Linked Data

MyVariant Identifiers: chr2:g.179411469G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546742G>C , CM000664.2:g.178546742G>C GRCh38
NC_000002.11:g.179411469G>C , CM000664.1:g.179411469G>C GRCh37
NC_000002.10:g.179119715G>C NCBI36
NG_011618.3:g.289061C>G , LRG_391:g.289061C>G
NG_051363.1:g.28916G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.86982C>G (TTN) ENSP00000343764.6:p.Thr28994=
ENST00000342175.11:c.68067C>G (TTN) ENSP00000340554.6:p.Thr22689=
ENST00000359218.10:c.67866C>G (TTN) ENSP00000352154.5:p.Thr22622=
ENST00000342175.10:c.68067C>G (TTN) ENSP00000340554.6:p.Thr22689=
ENST00000342992.10:c.86982C>G (TTN) ENSP00000343764.6:p.Thr28994=
ENST00000359218.9:c.67866C>G (TTN) ENSP00000352154.5:p.Thr22622=
ENST00000460472.6:c.67491C>G (TTN) ENSP00000434586.1:p.Thr22497=
ENST00000589042.5:c.94686C>G (TTN) MANE Select ENSP00000467141.1:p.Thr31562=
ENST00000591111.5:c.89763C>G (TTN) ENSP00000465570.1:p.Thr29921=
ENST00000615779.4:c.89763C>G (TTN) ENSP00000483597.1:p.Thr29921=
NM_001256850.1:c.89763C>G (TTN) NP_001243779.1:p.Thr29921=
NM_001267550.2:c.94686C>G (TTN) MANE Select NP_001254479.2:p.Thr31562=
NM_003319.4:c.67491C>G (TTN) NP_003310.4:p.Thr22497=
NM_133378.4:c.86982C>G (TTN) NP_596869.4:p.Thr28994=
NM_133432.3:c.67866C>G (TTN) NP_597676.3:p.Thr22622=
NM_133437.4:c.68067C>G (TTN) NP_597681.4:p.Thr22689=
NR_038271.1:n.446+23106G>C (TTN-AS1)
NR_038272.1:n.2043+4381G>C (TTN-AS1)
XM_011511729.1:c.93783C>G (TTN) XP_011510031.1:p.Thr31261=
XM_011511730.1:c.67677C>G (TTN) XP_011510032.1:p.Thr22559=
XM_011511731.1:c.67536C>G (TTN) XP_011510033.1:p.Thr22512=
XM_017004819.1:c.93579C>G (TTN) XP_016860308.1:p.Thr31193=
XM_017004820.1:c.88977C>G (TTN) XP_016860309.1:p.Thr29659=
XM_017004821.1:c.88974C>G (TTN) XP_016860310.1:p.Thr29658=
XM_017004822.1:c.86016C>G (TTN) XP_016860311.1:p.Thr28672=
XM_017004823.1:c.67632C>G (TTN) XP_016860312.1:p.Thr22544=
XM_024453094.1:c.89127C>G (TTN) XP_024308862.1:p.Thr29709=
XM_024453095.1:c.89124C>G (TTN) XP_024308863.1:p.Thr29708=
XM_024453096.1:c.88557C>G (TTN) XP_024308864.1:p.Thr29519=
XM_024453097.1:c.85899C>G (TTN) XP_024308865.1:p.Thr28633=
XM_024453098.1:c.85818C>G (TTN) XP_024308866.1:p.Thr28606=
XM_024453099.1:c.67581C>G (TTN) XP_024308867.1:p.Thr22527=
XM_024453100.1:c.57435C>G (TTN) XP_024308868.1:p.Thr19145=