Canonical Allele Identifier: CA348224

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 220680
• ClinVar RCV Id: RCV000203942 ; RCV000245927 ; RCV001798687 ; RCV003401109 ; RCV004530235 ; RCV000291189
• dbSNP Id: rs375676529
• ExAC: 2:179444320 C / T
• gnomAD v2: 2-179444320-C-T
• gnomAD v3: 2-178579593-C-T
• gnomAD v4: 2-178579593-C-T
• MyVariant Identifiers: chr2:g.179444320C>T (hg19) ; chr2:g.178579593C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178579593C>T , CM000664.2:g.178579593C>T	GRCh38
NC_000002.11:g.179444320C>T , CM000664.1:g.179444320C>T	GRCh37
NC_000002.10:g.179152566C>T	NCBI36
NG_011618.3:g.256210G>A , LRG_391:g.256210G>A
NG_051363.1:g.61767C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.59900G>A (TTN)	ENSP00000343764.6:p.Ser19967Asn
ENST00000342175.11:c.40985G>A (TTN)	ENSP00000340554.6:p.Ser13662Asn
ENST00000359218.10:c.40784G>A (TTN)	ENSP00000352154.5:p.Ser13595Asn
ENST00000342175.10:c.40985G>A (TTN)	ENSP00000340554.6:p.Ser13662Asn
ENST00000342992.10:c.59900G>A (TTN)	ENSP00000343764.6:p.Ser19967Asn
ENST00000359218.9:c.40784G>A (TTN)	ENSP00000352154.5:p.Ser13595Asn
ENST00000460472.6:c.40409G>A (TTN)	ENSP00000434586.1:p.Ser13470Asn
ENST00000589042.5:c.67604G>A (TTN) MANE Select	ENSP00000467141.1:p.Ser22535Asn
ENST00000591111.5:c.62681G>A (TTN)	ENSP00000465570.1:p.Ser20894Asn
ENST00000615779.4:c.62681G>A (TTN)	ENSP00000483597.1:p.Ser20894Asn
NM_001256850.1:c.62681G>A (TTN)	NP_001243779.1:p.Ser20894Asn
NM_001267550.2:c.67604G>A (TTN) MANE Select	NP_001254479.2:p.Ser22535Asn
NM_003319.4:c.40409G>A (TTN)	NP_003310.4:p.Ser13470Asn
NM_133378.4:c.59900G>A (TTN)	NP_596869.4:p.Ser19967Asn
NM_133432.3:c.40784G>A (TTN)	NP_597676.3:p.Ser13595Asn
NM_133437.4:c.40985G>A (TTN)	NP_597681.4:p.Ser13662Asn
NR_038271.1:n.596+8144C>T (TTN-AS1)
NR_038272.1:n.2044-2979C>T (TTN-AS1)
XM_011511729.1:c.66701G>A (TTN)	XP_011510031.1:p.Ser22234Asn
XM_011511730.1:c.40595G>A (TTN)	XP_011510032.1:p.Ser13532Asn
XM_011511731.1:c.40454G>A (TTN)	XP_011510033.1:p.Ser13485Asn
XM_017004819.1:c.66497G>A (TTN)	XP_016860308.1:p.Ser22166Asn
XM_017004820.1:c.61895G>A (TTN)	XP_016860309.1:p.Ser20632Asn
XM_017004821.1:c.61892G>A (TTN)	XP_016860310.1:p.Ser20631Asn
XM_017004822.1:c.58934G>A (TTN)	XP_016860311.1:p.Ser19645Asn
XM_017004823.1:c.40550G>A (TTN)	XP_016860312.1:p.Ser13517Asn
XM_024453094.1:c.62045G>A (TTN)	XP_024308862.1:p.Ser20682Asn
XM_024453095.1:c.62042G>A (TTN)	XP_024308863.1:p.Ser20681Asn
XM_024453096.1:c.61475G>A (TTN)	XP_024308864.1:p.Ser20492Asn
XM_024453097.1:c.58817G>A (TTN)	XP_024308865.1:p.Ser19606Asn
XM_024453098.1:c.58736G>A (TTN)	XP_024308866.1:p.Ser19579Asn
XM_024453099.1:c.40499G>A (TTN)	XP_024308867.1:p.Ser13500Asn
XM_024453100.1:c.30353G>A (TTN)	XP_024308868.1:p.Ser10118Asn