Canonical Allele Identifier: CA1995082

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs369399843
• ExAC: 2:179482844 G / T
• gnomAD v2: 2-179482844-G-T
• gnomAD v4: 2-178618117-G-T
• MyVariant Identifiers: chr2:g.179482844G>T (hg19) ; chr2:g.178618117G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618117G>T , CM000664.2:g.178618117G>T	GRCh38
NC_000002.11:g.179482844G>T , CM000664.1:g.179482844G>T	GRCh37
NC_000002.10:g.179191089G>T	NCBI36
NG_011618.3:g.217686C>A , LRG_391:g.217686C>A
NG_051363.1:g.100291G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.39566-36C>A (TTN)	ENSP00000343764.6:n.39566-36C>A
ENST00000342175.11:c.20651-36C>A (TTN)	ENSP00000340554.6:n.20651-36C>A
ENST00000359218.10:c.20450-36C>A (TTN)	ENSP00000352154.5:n.20450-36C>A
ENST00000342175.10:c.20651-36C>A (TTN)	ENSP00000340554.6:n.20651-36C>A
ENST00000342992.10:c.39566-36C>A (TTN)	ENSP00000343764.6:n.39566-36C>A
ENST00000359218.9:c.20450-36C>A (TTN)	ENSP00000352154.5:n.20450-36C>A
ENST00000460472.6:c.20075-36C>A (TTN)	ENSP00000434586.1:n.20075-36C>A
ENST00000589042.5:c.47270-36C>A (TTN) MANE Select	ENSP00000467141.1:n.47270-36C>A
ENST00000591111.5:c.42347-36C>A (TTN)	ENSP00000465570.1:n.42347-36C>A
ENST00000615779.4:c.42347-36C>A (TTN)	ENSP00000483597.1:n.42347-36C>A
NM_001256850.1:c.42347-36C>A (TTN)	NP_001243779.1:n.42347-36C>A
NM_001267550.2:c.47270-36C>A (TTN) MANE Select	NP_001254479.2:n.47270-36C>A
NM_003319.4:c.20075-36C>A (TTN)	NP_003310.4:n.20075-36C>A
NM_133378.4:c.39566-36C>A (TTN)	NP_596869.4:n.39566-36C>A
NM_133432.3:c.20450-36C>A (TTN)	NP_597676.3:n.20450-36C>A
NM_133437.4:c.20651-36C>A (TTN)	NP_597681.4:n.20651-36C>A
NR_038271.1:n.1605-1636G>T (TTN-AS1)
XM_011511729.1:c.46367-36C>A (TTN)	XP_011510031.1:n.46367-36C>A
XM_011511730.1:c.20261-36C>A (TTN)	XP_011510032.1:n.20261-36C>A
XM_011511731.1:c.20120-36C>A (TTN)	XP_011510033.1:n.20120-36C>A
XM_017004819.1:c.46163-36C>A (TTN)	XP_016860308.1:n.46163-36C>A
XM_017004820.1:c.41561-36C>A (TTN)	XP_016860309.1:n.41561-36C>A
XM_017004821.1:c.41558-36C>A (TTN)	XP_016860310.1:n.41558-36C>A
XM_017004822.1:c.38600-36C>A (TTN)	XP_016860311.1:n.38600-36C>A
XM_017004823.1:c.20216-36C>A (TTN)	XP_016860312.1:n.20216-36C>A
XM_024453094.1:c.41711-36C>A (TTN)	XP_024308862.1:n.41711-36C>A
XM_024453095.1:c.41708-36C>A (TTN)	XP_024308863.1:n.41708-36C>A
XM_024453096.1:c.41141-36C>A (TTN)	XP_024308864.1:n.41141-36C>A
XM_024453097.1:c.38483-36C>A (TTN)	XP_024308865.1:n.38483-36C>A
XM_024453098.1:c.38402-36C>A (TTN)	XP_024308866.1:n.38402-36C>A
XM_024453099.1:c.20165-36C>A (TTN)	XP_024308867.1:n.20165-36C>A
XM_024453100.1:c.10019-36C>A (TTN)	XP_024308868.1:n.10019-36C>A