Canonical Allele Identifier: CA430245458

Linked Data

dbSNP Id: rs1699860182
MyVariant Identifiers: chr2:g.179417291A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552564A>G , CM000664.2:g.178552564A>G GRCh38
NC_000002.11:g.179417291A>G , CM000664.1:g.179417291A>G GRCh37
NC_000002.10:g.179125537A>G NCBI36
NG_011618.3:g.283239T>C , LRG_391:g.283239T>C
NG_051363.1:g.34738A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.82632T>C (TTN) ENSP00000343764.6:p.Ser27544=
ENST00000342175.11:c.63717T>C (TTN) ENSP00000340554.6:p.Ser21239=
ENST00000359218.10:c.63516T>C (TTN) ENSP00000352154.5:p.Ser21172=
ENST00000342175.10:c.63717T>C (TTN) ENSP00000340554.6:p.Ser21239=
ENST00000342992.10:c.82632T>C (TTN) ENSP00000343764.6:p.Ser27544=
ENST00000359218.9:c.63516T>C (TTN) ENSP00000352154.5:p.Ser21172=
ENST00000460472.6:c.63141T>C (TTN) ENSP00000434586.1:p.Ser21047=
ENST00000589042.5:c.90336T>C (TTN) MANE Select ENSP00000467141.1:p.Ser30112=
ENST00000591111.5:c.85413T>C (TTN) ENSP00000465570.1:p.Ser28471=
ENST00000615779.4:c.85413T>C (TTN) ENSP00000483597.1:p.Ser28471=
NM_001256850.1:c.85413T>C (TTN) NP_001243779.1:p.Ser28471=
NM_001267550.2:c.90336T>C (TTN) MANE Select NP_001254479.2:p.Ser30112=
NM_003319.4:c.63141T>C (TTN) NP_003310.4:p.Ser21047=
NM_133378.4:c.82632T>C (TTN) NP_596869.4:p.Ser27544=
NM_133432.3:c.63516T>C (TTN) NP_597676.3:p.Ser21172=
NM_133437.4:c.63717T>C (TTN) NP_597681.4:p.Ser21239=
NR_038271.1:n.447-18736A>G (TTN-AS1)
NR_038272.1:n.2043+10203A>G (TTN-AS1)
XM_011511729.1:c.89433T>C (TTN) XP_011510031.1:p.Ser29811=
XM_011511730.1:c.63327T>C (TTN) XP_011510032.1:p.Ser21109=
XM_011511731.1:c.63186T>C (TTN) XP_011510033.1:p.Ser21062=
XM_017004819.1:c.89229T>C (TTN) XP_016860308.1:p.Ser29743=
XM_017004820.1:c.84627T>C (TTN) XP_016860309.1:p.Ser28209=
XM_017004821.1:c.84624T>C (TTN) XP_016860310.1:p.Ser28208=
XM_017004822.1:c.81666T>C (TTN) XP_016860311.1:p.Ser27222=
XM_017004823.1:c.63282T>C (TTN) XP_016860312.1:p.Ser21094=
XM_024453094.1:c.84777T>C (TTN) XP_024308862.1:p.Ser28259=
XM_024453095.1:c.84774T>C (TTN) XP_024308863.1:p.Ser28258=
XM_024453096.1:c.84207T>C (TTN) XP_024308864.1:p.Ser28069=
XM_024453097.1:c.81549T>C (TTN) XP_024308865.1:p.Ser27183=
XM_024453098.1:c.81468T>C (TTN) XP_024308866.1:p.Ser27156=
XM_024453099.1:c.63231T>C (TTN) XP_024308867.1:p.Ser21077=
XM_024453100.1:c.53085T>C (TTN) XP_024308868.1:p.Ser17695=