Canonical Allele Identifier: CA16610290

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 404954
• ClinVar RCV Id: RCV000472229
• dbSNP Id: rs1060500510
• MyVariant Identifiers: chr2:g.179402419G>T (hg19) ; chr2:g.178537692G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537692G>T , CM000664.2:g.178537692G>T	GRCh38
NC_000002.11:g.179402419G>T , CM000664.1:g.179402419G>T	GRCh37
NC_000002.10:g.179110665G>T	NCBI36
NG_011618.3:g.298111C>A , LRG_391:g.298111C>A
NG_051363.1:g.19866G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.91811C>A (TTN)	ENSP00000343764.6:p.Thr30604Asn
ENST00000342175.11:c.72896C>A (TTN)	ENSP00000340554.6:p.Thr24299Asn
ENST00000359218.10:c.72695C>A (TTN)	ENSP00000352154.5:p.Thr24232Asn
ENST00000342175.10:c.72896C>A (TTN)	ENSP00000340554.6:p.Thr24299Asn
ENST00000342992.10:c.91811C>A (TTN)	ENSP00000343764.6:p.Thr30604Asn
ENST00000359218.9:c.72695C>A (TTN)	ENSP00000352154.5:p.Thr24232Asn
ENST00000460472.6:c.72320C>A (TTN)	ENSP00000434586.1:p.Thr24107Asn
ENST00000589042.5:c.99515C>A (TTN) MANE Select	ENSP00000467141.1:p.Thr33172Asn
ENST00000591111.5:c.94592C>A (TTN)	ENSP00000465570.1:p.Thr31531Asn
ENST00000615779.4:c.94592C>A (TTN)	ENSP00000483597.1:p.Thr31531Asn
NM_001256850.1:c.94592C>A (TTN)	NP_001243779.1:p.Thr31531Asn
NM_001267550.2:c.99515C>A (TTN) MANE Select	NP_001254479.2:p.Thr33172Asn
NM_003319.4:c.72320C>A (TTN)	NP_003310.4:p.Thr24107Asn
NM_133378.4:c.91811C>A (TTN)	NP_596869.4:p.Thr30604Asn
NM_133432.3:c.72695C>A (TTN)	NP_597676.3:p.Thr24232Asn
NM_133437.4:c.72896C>A (TTN)	NP_597681.4:p.Thr24299Asn
NR_038271.1:n.446+14056G>T (TTN-AS1)
NR_038272.1:n.647+1G>T (TTN-AS1)
XM_011511729.1:c.98612C>A (TTN)	XP_011510031.1:p.Thr32871Asn
XM_011511730.1:c.72506C>A (TTN)	XP_011510032.1:p.Thr24169Asn
XM_011511731.1:c.72365C>A (TTN)	XP_011510033.1:p.Thr24122Asn
XM_017004819.1:c.98408C>A (TTN)	XP_016860308.1:p.Thr32803Asn
XM_017004820.1:c.93806C>A (TTN)	XP_016860309.1:p.Thr31269Asn
XM_017004821.1:c.93803C>A (TTN)	XP_016860310.1:p.Thr31268Asn
XM_017004822.1:c.90845C>A (TTN)	XP_016860311.1:p.Thr30282Asn
XM_017004823.1:c.72461C>A (TTN)	XP_016860312.1:p.Thr24154Asn
XM_024453094.1:c.93956C>A (TTN)	XP_024308862.1:p.Thr31319Asn
XM_024453095.1:c.93953C>A (TTN)	XP_024308863.1:p.Thr31318Asn
XM_024453096.1:c.93386C>A (TTN)	XP_024308864.1:p.Thr31129Asn
XM_024453097.1:c.90728C>A (TTN)	XP_024308865.1:p.Thr30243Asn
XM_024453098.1:c.90647C>A (TTN)	XP_024308866.1:p.Thr30216Asn
XM_024453099.1:c.72410C>A (TTN)	XP_024308867.1:p.Thr24137Asn
XM_024453100.1:c.62264C>A (TTN)	XP_024308868.1:p.Thr20755Asn