Canonical Allele Identifier: CA430241509

Linked Data

MyVariant Identifiers: chr2:g.179408598A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543871A>C , CM000664.2:g.178543871A>C GRCh38
NC_000002.11:g.179408598A>C , CM000664.1:g.179408598A>C GRCh37
NC_000002.10:g.179116844A>C NCBI36
NG_011618.3:g.291932T>G , LRG_391:g.291932T>G
NG_051363.1:g.26045A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88569T>G (TTN) ENSP00000343764.6:p.Ser29523=
ENST00000342175.11:c.69654T>G (TTN) ENSP00000340554.6:p.Ser23218=
ENST00000359218.10:c.69453T>G (TTN) ENSP00000352154.5:p.Ser23151=
ENST00000342175.10:c.69654T>G (TTN) ENSP00000340554.6:p.Ser23218=
ENST00000342992.10:c.88569T>G (TTN) ENSP00000343764.6:p.Ser29523=
ENST00000359218.9:c.69453T>G (TTN) ENSP00000352154.5:p.Ser23151=
ENST00000460472.6:c.69078T>G (TTN) ENSP00000434586.1:p.Ser23026=
ENST00000589042.5:c.96273T>G (TTN) MANE Select ENSP00000467141.1:p.Ser32091=
ENST00000591111.5:c.91350T>G (TTN) ENSP00000465570.1:p.Ser30450=
ENST00000615779.4:c.91350T>G (TTN) ENSP00000483597.1:p.Ser30450=
NM_001256850.1:c.91350T>G (TTN) NP_001243779.1:p.Ser30450=
NM_001267550.2:c.96273T>G (TTN) MANE Select NP_001254479.2:p.Ser32091=
NM_003319.4:c.69078T>G (TTN) NP_003310.4:p.Ser23026=
NM_133378.4:c.88569T>G (TTN) NP_596869.4:p.Ser29523=
NM_133432.3:c.69453T>G (TTN) NP_597676.3:p.Ser23151=
NM_133437.4:c.69654T>G (TTN) NP_597681.4:p.Ser23218=
NR_038271.1:n.446+20235A>C (TTN-AS1)
NR_038272.1:n.2043+1510A>C (TTN-AS1)
XM_011511729.1:c.95370T>G (TTN) XP_011510031.1:p.Ser31790=
XM_011511730.1:c.69264T>G (TTN) XP_011510032.1:p.Ser23088=
XM_011511731.1:c.69123T>G (TTN) XP_011510033.1:p.Ser23041=
XM_017004819.1:c.95166T>G (TTN) XP_016860308.1:p.Ser31722=
XM_017004820.1:c.90564T>G (TTN) XP_016860309.1:p.Ser30188=
XM_017004821.1:c.90561T>G (TTN) XP_016860310.1:p.Ser30187=
XM_017004822.1:c.87603T>G (TTN) XP_016860311.1:p.Ser29201=
XM_017004823.1:c.69219T>G (TTN) XP_016860312.1:p.Ser23073=
XM_024453094.1:c.90714T>G (TTN) XP_024308862.1:p.Ser30238=
XM_024453095.1:c.90711T>G (TTN) XP_024308863.1:p.Ser30237=
XM_024453096.1:c.90144T>G (TTN) XP_024308864.1:p.Ser30048=
XM_024453097.1:c.87486T>G (TTN) XP_024308865.1:p.Ser29162=
XM_024453098.1:c.87405T>G (TTN) XP_024308866.1:p.Ser29135=
XM_024453099.1:c.69168T>G (TTN) XP_024308867.1:p.Ser23056=
XM_024453100.1:c.59022T>G (TTN) XP_024308868.1:p.Ser19674=