Canonical Allele Identifier: CA349647819

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1317961442
• gnomAD v2: 2-179438605-G-T
• gnomAD v3: 2-178573878-G-T
• gnomAD v4: 2-178573878-G-T
• MyVariant Identifiers: chr2:g.179438605G>T (hg19) ; chr2:g.178573878G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178573878G>T , CM000664.2:g.178573878G>T	GRCh38
NC_000002.11:g.179438605G>T , CM000664.1:g.179438605G>T	GRCh37
NC_000002.10:g.179146851G>T	NCBI36
NG_011618.3:g.261925C>A , LRG_391:g.261925C>A
NG_051363.1:g.56052G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.64550C>A (TTN)	ENSP00000343764.6:p.Thr21517Asn
ENST00000342175.11:c.45635C>A (TTN)	ENSP00000340554.6:p.Thr15212Asn
ENST00000359218.10:c.45434C>A (TTN)	ENSP00000352154.5:p.Thr15145Asn
ENST00000342175.10:c.45635C>A (TTN)	ENSP00000340554.6:p.Thr15212Asn
ENST00000342992.10:c.64550C>A (TTN)	ENSP00000343764.6:p.Thr21517Asn
ENST00000359218.9:c.45434C>A (TTN)	ENSP00000352154.5:p.Thr15145Asn
ENST00000460472.6:c.45059C>A (TTN)	ENSP00000434586.1:p.Thr15020Asn
ENST00000589042.5:c.72254C>A (TTN) MANE Select	ENSP00000467141.1:p.Thr24085Asn
ENST00000591111.5:c.67331C>A (TTN)	ENSP00000465570.1:p.Thr22444Asn
ENST00000615779.4:c.67331C>A (TTN)	ENSP00000483597.1:p.Thr22444Asn
NM_001256850.1:c.67331C>A (TTN)	NP_001243779.1:p.Thr22444Asn
NM_001267550.2:c.72254C>A (TTN) MANE Select	NP_001254479.2:p.Thr24085Asn
NM_003319.4:c.45059C>A (TTN)	NP_003310.4:p.Thr15020Asn
NM_133378.4:c.64550C>A (TTN)	NP_596869.4:p.Thr21517Asn
NM_133432.3:c.45434C>A (TTN)	NP_597676.3:p.Thr15145Asn
NM_133437.4:c.45635C>A (TTN)	NP_597681.4:p.Thr15212Asn
NR_038271.1:n.596+2429G>T (TTN-AS1)
NR_038272.1:n.2044-8694G>T (TTN-AS1)
XM_011511729.1:c.71351C>A (TTN)	XP_011510031.1:p.Thr23784Asn
XM_011511730.1:c.45245C>A (TTN)	XP_011510032.1:p.Thr15082Asn
XM_011511731.1:c.45104C>A (TTN)	XP_011510033.1:p.Thr15035Asn
XM_017004819.1:c.71147C>A (TTN)	XP_016860308.1:p.Thr23716Asn
XM_017004820.1:c.66545C>A (TTN)	XP_016860309.1:p.Thr22182Asn
XM_017004821.1:c.66542C>A (TTN)	XP_016860310.1:p.Thr22181Asn
XM_017004822.1:c.63584C>A (TTN)	XP_016860311.1:p.Thr21195Asn
XM_017004823.1:c.45200C>A (TTN)	XP_016860312.1:p.Thr15067Asn
XM_024453094.1:c.66695C>A (TTN)	XP_024308862.1:p.Thr22232Asn
XM_024453095.1:c.66692C>A (TTN)	XP_024308863.1:p.Thr22231Asn
XM_024453096.1:c.66125C>A (TTN)	XP_024308864.1:p.Thr22042Asn
XM_024453097.1:c.63467C>A (TTN)	XP_024308865.1:p.Thr21156Asn
XM_024453098.1:c.63386C>A (TTN)	XP_024308866.1:p.Thr21129Asn
XM_024453099.1:c.45149C>A (TTN)	XP_024308867.1:p.Thr15050Asn
XM_024453100.1:c.35003C>A (TTN)	XP_024308868.1:p.Thr11668Asn