Canonical Allele Identifier: CA1990537

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs777857293
• ExAC: 2:179438705 C / T
• gnomAD v2: 2-179438705-C-T
• gnomAD v3: 2-178573978-C-T
• gnomAD v4: 2-178573978-C-T
• MyVariant Identifiers: chr2:g.179438705C>T (hg19) ; chr2:g.178573978C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178573978C>T , CM000664.2:g.178573978C>T	GRCh38
NC_000002.11:g.179438705C>T , CM000664.1:g.179438705C>T	GRCh37
NC_000002.10:g.179146951C>T	NCBI36
NG_011618.3:g.261825G>A , LRG_391:g.261825G>A
NG_051363.1:g.56152C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.64450G>A (TTN)	ENSP00000343764.6:p.Asp21484Asn
ENST00000342175.11:c.45535G>A (TTN)	ENSP00000340554.6:p.Asp15179Asn
ENST00000359218.10:c.45334G>A (TTN)	ENSP00000352154.5:p.Asp15112Asn
ENST00000342175.10:c.45535G>A (TTN)	ENSP00000340554.6:p.Asp15179Asn
ENST00000342992.10:c.64450G>A (TTN)	ENSP00000343764.6:p.Asp21484Asn
ENST00000359218.9:c.45334G>A (TTN)	ENSP00000352154.5:p.Asp15112Asn
ENST00000460472.6:c.44959G>A (TTN)	ENSP00000434586.1:p.Asp14987Asn
ENST00000589042.5:c.72154G>A (TTN) MANE Select	ENSP00000467141.1:p.Asp24052Asn
ENST00000591111.5:c.67231G>A (TTN)	ENSP00000465570.1:p.Asp22411Asn
ENST00000615779.4:c.67231G>A (TTN)	ENSP00000483597.1:p.Asp22411Asn
NM_001256850.1:c.67231G>A (TTN)	NP_001243779.1:p.Asp22411Asn
NM_001267550.2:c.72154G>A (TTN) MANE Select	NP_001254479.2:p.Asp24052Asn
NM_003319.4:c.44959G>A (TTN)	NP_003310.4:p.Asp14987Asn
NM_133378.4:c.64450G>A (TTN)	NP_596869.4:p.Asp21484Asn
NM_133432.3:c.45334G>A (TTN)	NP_597676.3:p.Asp15112Asn
NM_133437.4:c.45535G>A (TTN)	NP_597681.4:p.Asp15179Asn
NR_038271.1:n.596+2529C>T (TTN-AS1)
NR_038272.1:n.2044-8594C>T (TTN-AS1)
XM_011511729.1:c.71251G>A (TTN)	XP_011510031.1:p.Asp23751Asn
XM_011511730.1:c.45145G>A (TTN)	XP_011510032.1:p.Asp15049Asn
XM_011511731.1:c.45004G>A (TTN)	XP_011510033.1:p.Asp15002Asn
XM_017004819.1:c.71047G>A (TTN)	XP_016860308.1:p.Asp23683Asn
XM_017004820.1:c.66445G>A (TTN)	XP_016860309.1:p.Asp22149Asn
XM_017004821.1:c.66442G>A (TTN)	XP_016860310.1:p.Asp22148Asn
XM_017004822.1:c.63484G>A (TTN)	XP_016860311.1:p.Asp21162Asn
XM_017004823.1:c.45100G>A (TTN)	XP_016860312.1:p.Asp15034Asn
XM_024453094.1:c.66595G>A (TTN)	XP_024308862.1:p.Asp22199Asn
XM_024453095.1:c.66592G>A (TTN)	XP_024308863.1:p.Asp22198Asn
XM_024453096.1:c.66025G>A (TTN)	XP_024308864.1:p.Asp22009Asn
XM_024453097.1:c.63367G>A (TTN)	XP_024308865.1:p.Asp21123Asn
XM_024453098.1:c.63286G>A (TTN)	XP_024308866.1:p.Asp21096Asn
XM_024453099.1:c.45049G>A (TTN)	XP_024308867.1:p.Asp15017Asn
XM_024453100.1:c.34903G>A (TTN)	XP_024308868.1:p.Asp11635Asn