Canonical Allele Identifier: CA1996191

Gene: TTN

Linked Data

• dbSNP Id: rs564720459
• ExAC: 2:179500060 A / C
• gnomAD v2: 2-179500060-A-C
• gnomAD v3: 2-178635333-A-C
• gnomAD v4: 2-178635333-A-C
• MyVariant Identifiers: chr2:g.179500060A>C (hg19) ; chr2:g.178635333A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178635333A>C , CM000664.2:g.178635333A>C	GRCh38
NC_000002.11:g.179500060A>C , CM000664.1:g.179500060A>C	GRCh37
NC_000002.10:g.179208305A>C	NCBI36
NG_011618.3:g.200470T>G , LRG_391:g.200470T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.34181-29T>G	ENSP00000343764.6:n.34181-29T>G
ENST00000342175.11:c.15266-29T>G	ENSP00000340554.6:n.15266-29T>G
ENST00000359218.10:c.15065-29T>G	ENSP00000352154.5:n.15065-29T>G
ENST00000342175.10:c.15266-29T>G	ENSP00000340554.6:n.15266-29T>G
ENST00000342992.10:c.34181-29T>G	ENSP00000343764.6:n.34181-29T>G
ENST00000359218.9:c.15065-29T>G	ENSP00000352154.5:n.15065-29T>G
ENST00000460472.6:c.14690-29T>G	ENSP00000434586.1:n.14690-29T>G
ENST00000589042.5:c.41885-29T>G MANE Select	ENSP00000467141.1:n.41885-29T>G
ENST00000591111.5:c.36962-29T>G	ENSP00000465570.1:n.36962-29T>G
ENST00000615779.4:c.36962-29T>G	ENSP00000483597.1:n.36962-29T>G
NM_001256850.1:c.36962-29T>G	NP_001243779.1:n.36962-29T>G
NM_001267550.2:c.41885-29T>G MANE Select	NP_001254479.2:n.41885-29T>G
NM_003319.4:c.14690-29T>G	NP_003310.4:n.14690-29T>G
NM_133378.4:c.34181-29T>G	NP_596869.4:n.34181-29T>G
NM_133432.3:c.15065-29T>G	NP_597676.3:n.15065-29T>G
NM_133437.4:c.15266-29T>G	NP_597681.4:n.15266-29T>G
XM_011511729.1:c.40982-29T>G	XP_011510031.1:n.40982-29T>G
XM_011511730.1:c.14876-29T>G	XP_011510032.1:n.14876-29T>G
XM_011511731.1:c.14735-29T>G	XP_011510033.1:n.14735-29T>G
XM_017004819.1:c.40778-29T>G	XP_016860308.1:n.40778-29T>G
XM_017004820.1:c.36176-29T>G	XP_016860309.1:n.36176-29T>G
XM_017004821.1:c.36173-29T>G	XP_016860310.1:n.36173-29T>G
XM_017004822.1:c.33215-29T>G	XP_016860311.1:n.33215-29T>G
XM_017004823.1:c.14831-29T>G	XP_016860312.1:n.14831-29T>G
XM_024453094.1:c.36326-29T>G	XP_024308862.1:n.36326-29T>G
XM_024453095.1:c.36323-29T>G	XP_024308863.1:n.36323-29T>G
XM_024453096.1:c.35756-29T>G	XP_024308864.1:n.35756-29T>G
XM_024453097.1:c.33098-29T>G	XP_024308865.1:n.33098-29T>G
XM_024453098.1:c.33017-29T>G	XP_024308866.1:n.33017-29T>G
XM_024453099.1:c.14780-29T>G	XP_024308867.1:n.14780-29T>G
XM_024453100.1:c.4634-29T>G	XP_024308868.1:n.4634-29T>G