Canonical Allele Identifier: CA10581867

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 238787
• ClinVar RCV Id: RCV000231819
• dbSNP Id: rs878854312
• gnomAD v3: 2-178618055-T-A
• gnomAD v4: 2-178618055-T-A
• MyVariant Identifiers: chr2:g.179482782T>A (hg19) ; chr2:g.178618055T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618055T>A , CM000664.2:g.178618055T>A	GRCh38
NC_000002.11:g.179482782T>A , CM000664.1:g.179482782T>A	GRCh37
NC_000002.10:g.179191027T>A	NCBI36
NG_011618.3:g.217748A>T , LRG_391:g.217748A>T
NG_051363.1:g.100229T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.39592A>T (TTN)	ENSP00000343764.6:p.Thr13198Ser
ENST00000342175.11:c.20677A>T (TTN)	ENSP00000340554.6:p.Thr6893Ser
ENST00000359218.10:c.20476A>T (TTN)	ENSP00000352154.5:p.Thr6826Ser
ENST00000342175.10:c.20677A>T (TTN)	ENSP00000340554.6:p.Thr6893Ser
ENST00000342992.10:c.39592A>T (TTN)	ENSP00000343764.6:p.Thr13198Ser
ENST00000359218.9:c.20476A>T (TTN)	ENSP00000352154.5:p.Thr6826Ser
ENST00000460472.6:c.20101A>T (TTN)	ENSP00000434586.1:p.Thr6701Ser
ENST00000589042.5:c.47296A>T (TTN) MANE Select	ENSP00000467141.1:p.Thr15766Ser
ENST00000591111.5:c.42373A>T (TTN)	ENSP00000465570.1:p.Thr14125Ser
ENST00000615779.4:c.42373A>T (TTN)	ENSP00000483597.1:p.Thr14125Ser
NM_001256850.1:c.42373A>T (TTN)	NP_001243779.1:p.Thr14125Ser
NM_001267550.2:c.47296A>T (TTN) MANE Select	NP_001254479.2:p.Thr15766Ser
NM_003319.4:c.20101A>T (TTN)	NP_003310.4:p.Thr6701Ser
NM_133378.4:c.39592A>T (TTN)	NP_596869.4:p.Thr13198Ser
NM_133432.3:c.20476A>T (TTN)	NP_597676.3:p.Thr6826Ser
NM_133437.4:c.20677A>T (TTN)	NP_597681.4:p.Thr6893Ser
NR_038271.1:n.1605-1698T>A (TTN-AS1)
XM_011511729.1:c.46393A>T (TTN)	XP_011510031.1:p.Thr15465Ser
XM_011511730.1:c.20287A>T (TTN)	XP_011510032.1:p.Thr6763Ser
XM_011511731.1:c.20146A>T (TTN)	XP_011510033.1:p.Thr6716Ser
XM_017004819.1:c.46189A>T (TTN)	XP_016860308.1:p.Thr15397Ser
XM_017004820.1:c.41587A>T (TTN)	XP_016860309.1:p.Thr13863Ser
XM_017004821.1:c.41584A>T (TTN)	XP_016860310.1:p.Thr13862Ser
XM_017004822.1:c.38626A>T (TTN)	XP_016860311.1:p.Thr12876Ser
XM_017004823.1:c.20242A>T (TTN)	XP_016860312.1:p.Thr6748Ser
XM_024453094.1:c.41737A>T (TTN)	XP_024308862.1:p.Thr13913Ser
XM_024453095.1:c.41734A>T (TTN)	XP_024308863.1:p.Thr13912Ser
XM_024453096.1:c.41167A>T (TTN)	XP_024308864.1:p.Thr13723Ser
XM_024453097.1:c.38509A>T (TTN)	XP_024308865.1:p.Thr12837Ser
XM_024453098.1:c.38428A>T (TTN)	XP_024308866.1:p.Thr12810Ser
XM_024453099.1:c.20191A>T (TTN)	XP_024308867.1:p.Thr6731Ser
XM_024453100.1:c.10045A>T (TTN)	XP_024308868.1:p.Thr3349Ser