Canonical Allele Identifier: CA10604458

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 283319
• ClinVar RCV Id: RCV000345369 ; RCV002328765 ; RCV001436663
• dbSNP Id: rs770349910
• gnomAD v4: 2-178575995-G-T
• MyVariant Identifiers: chr2:g.179440722G>T (hg19) ; chr2:g.178575995G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178575995G>T , CM000664.2:g.178575995G>T	GRCh38
NC_000002.11:g.179440722G>T , CM000664.1:g.179440722G>T	GRCh37
NC_000002.10:g.179148968G>T	NCBI36
NG_011618.3:g.259808C>A , LRG_391:g.259808C>A
NG_051363.1:g.58169G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.62433C>A (TTN)	ENSP00000343764.6:p.Thr20811=
ENST00000342175.11:c.43518C>A (TTN)	ENSP00000340554.6:p.Thr14506=
ENST00000359218.10:c.43317C>A (TTN)	ENSP00000352154.5:p.Thr14439=
ENST00000342175.10:c.43518C>A (TTN)	ENSP00000340554.6:p.Thr14506=
ENST00000342992.10:c.62433C>A (TTN)	ENSP00000343764.6:p.Thr20811=
ENST00000359218.9:c.43317C>A (TTN)	ENSP00000352154.5:p.Thr14439=
ENST00000460472.6:c.42942C>A (TTN)	ENSP00000434586.1:p.Thr14314=
ENST00000589042.5:c.70137C>A (TTN) MANE Select	ENSP00000467141.1:p.Thr23379=
ENST00000591111.5:c.65214C>A (TTN)	ENSP00000465570.1:p.Thr21738=
ENST00000615779.4:c.65214C>A (TTN)	ENSP00000483597.1:p.Thr21738=
NM_001256850.1:c.65214C>A (TTN)	NP_001243779.1:p.Thr21738=
NM_001267550.2:c.70137C>A (TTN) MANE Select	NP_001254479.2:p.Thr23379=
NM_003319.4:c.42942C>A (TTN)	NP_003310.4:p.Thr14314=
NM_133378.4:c.62433C>A (TTN)	NP_596869.4:p.Thr20811=
NM_133432.3:c.43317C>A (TTN)	NP_597676.3:p.Thr14439=
NM_133437.4:c.43518C>A (TTN)	NP_597681.4:p.Thr14506=
NR_038271.1:n.596+4546G>T (TTN-AS1)
NR_038272.1:n.2044-6577G>T (TTN-AS1)
XM_011511729.1:c.69234C>A (TTN)	XP_011510031.1:p.Thr23078=
XM_011511730.1:c.43128C>A (TTN)	XP_011510032.1:p.Thr14376=
XM_011511731.1:c.42987C>A (TTN)	XP_011510033.1:p.Thr14329=
XM_017004819.1:c.69030C>A (TTN)	XP_016860308.1:p.Thr23010=
XM_017004820.1:c.64428C>A (TTN)	XP_016860309.1:p.Thr21476=
XM_017004821.1:c.64425C>A (TTN)	XP_016860310.1:p.Thr21475=
XM_017004822.1:c.61467C>A (TTN)	XP_016860311.1:p.Thr20489=
XM_017004823.1:c.43083C>A (TTN)	XP_016860312.1:p.Thr14361=
XM_024453094.1:c.64578C>A (TTN)	XP_024308862.1:p.Thr21526=
XM_024453095.1:c.64575C>A (TTN)	XP_024308863.1:p.Thr21525=
XM_024453096.1:c.64008C>A (TTN)	XP_024308864.1:p.Thr21336=
XM_024453097.1:c.61350C>A (TTN)	XP_024308865.1:p.Thr20450=
XM_024453098.1:c.61269C>A (TTN)	XP_024308866.1:p.Thr20423=
XM_024453099.1:c.43032C>A (TTN)	XP_024308867.1:p.Thr14344=
XM_024453100.1:c.32886C>A (TTN)	XP_024308868.1:p.Thr10962=