Canonical Allele Identifier: CA349480013

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs2050095324
• gnomAD v3: 2-178591010-C-T
• gnomAD v4: 2-178591010-C-T
• MyVariant Identifiers: chr2:g.179455737C>T (hg19) ; chr2:g.178591010C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591010C>T , CM000664.2:g.178591010C>T	GRCh38
NC_000002.11:g.179455737C>T , CM000664.1:g.179455737C>T	GRCh37
NC_000002.10:g.179163983C>T	NCBI36
NG_011618.3:g.244793G>A , LRG_391:g.244793G>A
NG_051363.1:g.73184C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.53011G>A (TTN)	ENSP00000343764.6:p.Gly17671Ser
ENST00000342175.11:c.34096G>A (TTN)	ENSP00000340554.6:p.Gly11366Ser
ENST00000359218.10:c.33895G>A (TTN)	ENSP00000352154.5:p.Gly11299Ser
ENST00000342175.10:c.34096G>A (TTN)	ENSP00000340554.6:p.Gly11366Ser
ENST00000342992.10:c.53011G>A (TTN)	ENSP00000343764.6:p.Gly17671Ser
ENST00000359218.9:c.33895G>A (TTN)	ENSP00000352154.5:p.Gly11299Ser
ENST00000460472.6:c.33520G>A (TTN)	ENSP00000434586.1:p.Gly11174Ser
ENST00000589042.5:c.60715G>A (TTN) MANE Select	ENSP00000467141.1:p.Gly20239Ser
ENST00000591111.5:c.55792G>A (TTN)	ENSP00000465570.1:p.Gly18598Ser
ENST00000615779.4:c.55792G>A (TTN)	ENSP00000483597.1:p.Gly18598Ser
NM_001256850.1:c.55792G>A (TTN)	NP_001243779.1:p.Gly18598Ser
NM_001267550.2:c.60715G>A (TTN) MANE Select	NP_001254479.2:p.Gly20239Ser
NM_003319.4:c.33520G>A (TTN)	NP_003310.4:p.Gly11174Ser
NM_133378.4:c.53011G>A (TTN)	NP_596869.4:p.Gly17671Ser
NM_133432.3:c.33895G>A (TTN)	NP_597676.3:p.Gly11299Ser
NM_133437.4:c.34096G>A (TTN)	NP_597681.4:p.Gly11366Ser
NR_038271.1:n.597-6586C>T (TTN-AS1)
NR_038272.1:n.3189-129C>T (TTN-AS1)
XM_011511729.1:c.59812G>A (TTN)	XP_011510031.1:p.Gly19938Ser
XM_011511730.1:c.33706G>A (TTN)	XP_011510032.1:p.Gly11236Ser
XM_011511731.1:c.33565G>A (TTN)	XP_011510033.1:p.Gly11189Ser
XM_017004819.1:c.59608G>A (TTN)	XP_016860308.1:p.Gly19870Ser
XM_017004820.1:c.55006G>A (TTN)	XP_016860309.1:p.Gly18336Ser
XM_017004821.1:c.55003G>A (TTN)	XP_016860310.1:p.Gly18335Ser
XM_017004822.1:c.52045G>A (TTN)	XP_016860311.1:p.Gly17349Ser
XM_017004823.1:c.33661G>A (TTN)	XP_016860312.1:p.Gly11221Ser
XM_024453094.1:c.55156G>A (TTN)	XP_024308862.1:p.Gly18386Ser
XM_024453095.1:c.55153G>A (TTN)	XP_024308863.1:p.Gly18385Ser
XM_024453096.1:c.54586G>A (TTN)	XP_024308864.1:p.Gly18196Ser
XM_024453097.1:c.51928G>A (TTN)	XP_024308865.1:p.Gly17310Ser
XM_024453098.1:c.51847G>A (TTN)	XP_024308866.1:p.Gly17283Ser
XM_024453099.1:c.33610G>A (TTN)	XP_024308867.1:p.Gly11204Ser
XM_024453100.1:c.23464G>A (TTN)	XP_024308868.1:p.Gly7822Ser