Canonical Allele Identifier: CA349613795

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1471696934
• gnomAD v2: 2-179434046-G-C
• gnomAD v4: 2-178569319-G-C
• MyVariant Identifiers: chr2:g.179434046G>C (hg19) ; chr2:g.178569319G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569319G>C , CM000664.2:g.178569319G>C	GRCh38
NC_000002.11:g.179434046G>C , CM000664.1:g.179434046G>C	GRCh37
NC_000002.10:g.179142292G>C	NCBI36
NG_011618.3:g.266484C>G , LRG_391:g.266484C>G
NG_051363.1:g.51493G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.69109C>G (TTN)	ENSP00000343764.6:p.Pro23037Ala
ENST00000342175.11:c.50194C>G (TTN)	ENSP00000340554.6:p.Pro16732Ala
ENST00000359218.10:c.49993C>G (TTN)	ENSP00000352154.5:p.Pro16665Ala
ENST00000342175.10:c.50194C>G (TTN)	ENSP00000340554.6:p.Pro16732Ala
ENST00000342992.10:c.69109C>G (TTN)	ENSP00000343764.6:p.Pro23037Ala
ENST00000359218.9:c.49993C>G (TTN)	ENSP00000352154.5:p.Pro16665Ala
ENST00000460472.6:c.49618C>G (TTN)	ENSP00000434586.1:p.Pro16540Ala
ENST00000589042.5:c.76813C>G (TTN) MANE Select	ENSP00000467141.1:p.Pro25605Ala
ENST00000591111.5:c.71890C>G (TTN)	ENSP00000465570.1:p.Pro23964Ala
ENST00000615779.4:c.71890C>G (TTN)	ENSP00000483597.1:p.Pro23964Ala
NM_001256850.1:c.71890C>G (TTN)	NP_001243779.1:p.Pro23964Ala
NM_001267550.2:c.76813C>G (TTN) MANE Select	NP_001254479.2:p.Pro25605Ala
NM_003319.4:c.49618C>G (TTN)	NP_003310.4:p.Pro16540Ala
NM_133378.4:c.69109C>G (TTN)	NP_596869.4:p.Pro23037Ala
NM_133432.3:c.49993C>G (TTN)	NP_597676.3:p.Pro16665Ala
NM_133437.4:c.50194C>G (TTN)	NP_597681.4:p.Pro16732Ala
NR_038271.1:n.447-1981G>C (TTN-AS1)
NR_038272.1:n.2044-13253G>C (TTN-AS1)
XM_011511729.1:c.75910C>G (TTN)	XP_011510031.1:p.Pro25304Ala
XM_011511730.1:c.49804C>G (TTN)	XP_011510032.1:p.Pro16602Ala
XM_011511731.1:c.49663C>G (TTN)	XP_011510033.1:p.Pro16555Ala
XM_017004819.1:c.75706C>G (TTN)	XP_016860308.1:p.Pro25236Ala
XM_017004820.1:c.71104C>G (TTN)	XP_016860309.1:p.Pro23702Ala
XM_017004821.1:c.71101C>G (TTN)	XP_016860310.1:p.Pro23701Ala
XM_017004822.1:c.68143C>G (TTN)	XP_016860311.1:p.Pro22715Ala
XM_017004823.1:c.49759C>G (TTN)	XP_016860312.1:p.Pro16587Ala
XM_024453094.1:c.71254C>G (TTN)	XP_024308862.1:p.Pro23752Ala
XM_024453095.1:c.71251C>G (TTN)	XP_024308863.1:p.Pro23751Ala
XM_024453096.1:c.70684C>G (TTN)	XP_024308864.1:p.Pro23562Ala
XM_024453097.1:c.68026C>G (TTN)	XP_024308865.1:p.Pro22676Ala
XM_024453098.1:c.67945C>G (TTN)	XP_024308866.1:p.Pro22649Ala
XM_024453099.1:c.49708C>G (TTN)	XP_024308867.1:p.Pro16570Ala
XM_024453100.1:c.39562C>G (TTN)	XP_024308868.1:p.Pro13188Ala