Canonical Allele Identifier: CA430235175

Linked Data

dbSNP Id: rs1477941660
MyVariant Identifiers: chr2:g.179395268A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530541A>G , CM000664.2:g.178530541A>G GRCh38
NC_000002.11:g.179395268A>G , CM000664.1:g.179395268A>G GRCh37
NC_000002.10:g.179103514A>G NCBI36
NG_011618.3:g.305262T>C , LRG_391:g.305262T>C
NG_051363.1:g.12715A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98370T>C (TTN) ENSP00000343764.6:p.Val32790=
ENST00000342175.11:c.79455T>C (TTN) ENSP00000340554.6:p.Val26485=
ENST00000359218.10:c.79254T>C (TTN) ENSP00000352154.5:p.Val26418=
ENST00000342175.10:c.79455T>C (TTN) ENSP00000340554.6:p.Val26485=
ENST00000342992.10:c.98370T>C (TTN) ENSP00000343764.6:p.Val32790=
ENST00000359218.9:c.79254T>C (TTN) ENSP00000352154.5:p.Val26418=
ENST00000460472.6:c.78879T>C (TTN) ENSP00000434586.1:p.Val26293=
ENST00000589042.5:c.106074T>C (TTN) MANE Select ENSP00000467141.1:p.Val35358=
ENST00000591111.5:c.101151T>C (TTN) ENSP00000465570.1:p.Val33717=
ENST00000615779.4:c.101151T>C (TTN) ENSP00000483597.1:p.Val33717=
NM_001256850.1:c.101151T>C (TTN) NP_001243779.1:p.Val33717=
NM_001267550.2:c.106074T>C (TTN) MANE Select NP_001254479.2:p.Val35358=
NM_003319.4:c.78879T>C (TTN) NP_003310.4:p.Val26293=
NM_133378.4:c.98370T>C (TTN) NP_596869.4:p.Val32790=
NM_133432.3:c.79254T>C (TTN) NP_597676.3:p.Val26418=
NM_133437.4:c.79455T>C (TTN) NP_597681.4:p.Val26485=
NR_038271.1:n.446+6905A>G (TTN-AS1)
NR_038272.1:n.220-5191A>G (TTN-AS1)
XM_011511729.1:c.105171T>C (TTN) XP_011510031.1:p.Val35057=
XM_011511730.1:c.79065T>C (TTN) XP_011510032.1:p.Val26355=
XM_011511731.1:c.78924T>C (TTN) XP_011510033.1:p.Val26308=
XM_017004819.1:c.104967T>C (TTN) XP_016860308.1:p.Val34989=
XM_017004820.1:c.100365T>C (TTN) XP_016860309.1:p.Val33455=
XM_017004821.1:c.100362T>C (TTN) XP_016860310.1:p.Val33454=
XM_017004822.1:c.97404T>C (TTN) XP_016860311.1:p.Val32468=
XM_017004823.1:c.79020T>C (TTN) XP_016860312.1:p.Val26340=
XM_024453094.1:c.100515T>C (TTN) XP_024308862.1:p.Val33505=
XM_024453095.1:c.100512T>C (TTN) XP_024308863.1:p.Val33504=
XM_024453096.1:c.99945T>C (TTN) XP_024308864.1:p.Val33315=
XM_024453097.1:c.97287T>C (TTN) XP_024308865.1:p.Val32429=
XM_024453098.1:c.97206T>C (TTN) XP_024308866.1:p.Val32402=
XM_024453099.1:c.78969T>C (TTN) XP_024308867.1:p.Val26323=
XM_024453100.1:c.68823T>C (TTN) XP_024308868.1:p.Val22941=