Canonical Allele Identifier: CA349427106

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1401105733
• gnomAD v2: 2-179401893-G-T
• gnomAD v4: 2-178537166-G-T
• MyVariant Identifiers: chr2:g.179401893G>T (hg19) ; chr2:g.178537166G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537166G>T , CM000664.2:g.178537166G>T	GRCh38
NC_000002.11:g.179401893G>T , CM000664.1:g.179401893G>T	GRCh37
NC_000002.10:g.179110139G>T	NCBI36
NG_011618.3:g.298637C>A , LRG_391:g.298637C>A
NG_051363.1:g.19340G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.92239C>A (TTN)	ENSP00000343764.6:p.Pro30747Thr
ENST00000342175.11:c.73324C>A (TTN)	ENSP00000340554.6:p.Pro24442Thr
ENST00000359218.10:c.73123C>A (TTN)	ENSP00000352154.5:p.Pro24375Thr
ENST00000342175.10:c.73324C>A (TTN)	ENSP00000340554.6:p.Pro24442Thr
ENST00000342992.10:c.92239C>A (TTN)	ENSP00000343764.6:p.Pro30747Thr
ENST00000359218.9:c.73123C>A (TTN)	ENSP00000352154.5:p.Pro24375Thr
ENST00000460472.6:c.72748C>A (TTN)	ENSP00000434586.1:p.Pro24250Thr
ENST00000589042.5:c.99943C>A (TTN) MANE Select	ENSP00000467141.1:p.Pro33315Thr
ENST00000591111.5:c.95020C>A (TTN)	ENSP00000465570.1:p.Pro31674Thr
ENST00000615779.4:c.95020C>A (TTN)	ENSP00000483597.1:p.Pro31674Thr
NM_001256850.1:c.95020C>A (TTN)	NP_001243779.1:p.Pro31674Thr
NM_001267550.2:c.99943C>A (TTN) MANE Select	NP_001254479.2:p.Pro33315Thr
NM_003319.4:c.72748C>A (TTN)	NP_003310.4:p.Pro24250Thr
NM_133378.4:c.92239C>A (TTN)	NP_596869.4:p.Pro30747Thr
NM_133432.3:c.73123C>A (TTN)	NP_597676.3:p.Pro24375Thr
NM_133437.4:c.73324C>A (TTN)	NP_597681.4:p.Pro24442Thr
NR_038271.1:n.446+13530G>T (TTN-AS1)
NR_038272.1:n.317-195G>T (TTN-AS1)
XM_011511729.1:c.99040C>A (TTN)	XP_011510031.1:p.Pro33014Thr
XM_011511730.1:c.72934C>A (TTN)	XP_011510032.1:p.Pro24312Thr
XM_011511731.1:c.72793C>A (TTN)	XP_011510033.1:p.Pro24265Thr
XM_017004819.1:c.98836C>A (TTN)	XP_016860308.1:p.Pro32946Thr
XM_017004820.1:c.94234C>A (TTN)	XP_016860309.1:p.Pro31412Thr
XM_017004821.1:c.94231C>A (TTN)	XP_016860310.1:p.Pro31411Thr
XM_017004822.1:c.91273C>A (TTN)	XP_016860311.1:p.Pro30425Thr
XM_017004823.1:c.72889C>A (TTN)	XP_016860312.1:p.Pro24297Thr
XM_024453094.1:c.94384C>A (TTN)	XP_024308862.1:p.Pro31462Thr
XM_024453095.1:c.94381C>A (TTN)	XP_024308863.1:p.Pro31461Thr
XM_024453096.1:c.93814C>A (TTN)	XP_024308864.1:p.Pro31272Thr
XM_024453097.1:c.91156C>A (TTN)	XP_024308865.1:p.Pro30386Thr
XM_024453098.1:c.91075C>A (TTN)	XP_024308866.1:p.Pro30359Thr
XM_024453099.1:c.72838C>A (TTN)	XP_024308867.1:p.Pro24280Thr
XM_024453100.1:c.62692C>A (TTN)	XP_024308868.1:p.Pro20898Thr