Canonical Allele Identifier: CA16603864
Gene: TTN HGNC NCBI
TTN-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 387590
ClinVar RCV Id: RCV000441617
dbSNP Id: rs1057522831
MyVariant Identifiers: chr2:g.179415988C>T (hg19) chr2:g.178551261C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551261C>T , CM000664.2:g.178551261C>T GRCh38
NC_000002.11:g.179415988C>T , CM000664.1:g.179415988C>T GRCh37
NC_000002.10:g.179124234C>T NCBI36
NG_011618.3:g.284542G>A , LRG_391:g.284542G>A
NG_051363.1:g.33435C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.83567-1G>A (TTN) ENSP00000343764.6:n.83567-1G>A
ENST00000342175.11:c.64652-1G>A (TTN) ENSP00000340554.6:n.64652-1G>A
ENST00000359218.10:c.64451-1G>A (TTN) ENSP00000352154.5:n.64451-1G>A
ENST00000342175.10:c.64652-1G>A (TTN) ENSP00000340554.6:n.64652-1G>A
ENST00000342992.10:c.83567-1G>A (TTN) ENSP00000343764.6:n.83567-1G>A
ENST00000359218.9:c.64451-1G>A (TTN) ENSP00000352154.5:n.64451-1G>A
ENST00000460472.6:c.64076-1G>A (TTN) ENSP00000434586.1:n.64076-1G>A
ENST00000589042.5:c.91271-1G>A (TTN) MANE Select ENSP00000467141.1:n.91271-1G>A
ENST00000591111.5:c.86348-1G>A (TTN) ENSP00000465570.1:n.86348-1G>A
ENST00000615779.4:c.86348-1G>A (TTN) ENSP00000483597.1:n.86348-1G>A
NM_001256850.1:c.86348-1G>A (TTN) NP_001243779.1:n.86348-1G>A
NM_001267550.2:c.91271-1G>A (TTN) MANE Select NP_001254479.2:n.91271-1G>A
NM_003319.4:c.64076-1G>A (TTN) NP_003310.4:n.64076-1G>A
NM_133378.4:c.83567-1G>A (TTN) NP_596869.4:n.83567-1G>A
NM_133432.3:c.64451-1G>A (TTN) NP_597676.3:n.64451-1G>A
NM_133437.4:c.64652-1G>A (TTN) NP_597681.4:n.64652-1G>A
NR_038271.1:n.447-20039C>T (TTN-AS1)
NR_038272.1:n.2043+8900C>T (TTN-AS1)
XM_011511729.1:c.90368-1G>A (TTN) XP_011510031.1:n.90368-1G>A
XM_011511730.1:c.64262-1G>A (TTN) XP_011510032.1:n.64262-1G>A
XM_011511731.1:c.64121-1G>A (TTN) XP_011510033.1:n.64121-1G>A
XM_017004819.1:c.90164-1G>A (TTN) XP_016860308.1:n.90164-1G>A
XM_017004820.1:c.85562-1G>A (TTN) XP_016860309.1:n.85562-1G>A
XM_017004821.1:c.85559-1G>A (TTN) XP_016860310.1:n.85559-1G>A
XM_017004822.1:c.82601-1G>A (TTN) XP_016860311.1:n.82601-1G>A
XM_017004823.1:c.64217-1G>A (TTN) XP_016860312.1:n.64217-1G>A
XM_024453094.1:c.85712-1G>A (TTN) XP_024308862.1:n.85712-1G>A
XM_024453095.1:c.85709-1G>A (TTN) XP_024308863.1:n.85709-1G>A
XM_024453096.1:c.85142-1G>A (TTN) XP_024308864.1:n.85142-1G>A
XM_024453097.1:c.82484-1G>A (TTN) XP_024308865.1:n.82484-1G>A
XM_024453098.1:c.82403-1G>A (TTN) XP_024308866.1:n.82403-1G>A
XM_024453099.1:c.64166-1G>A (TTN) XP_024308867.1:n.64166-1G>A
XM_024453100.1:c.54020-1G>A (TTN) XP_024308868.1:n.54020-1G>A
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