Canonical Allele Identifier: CA10604493

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 283446
• ClinVar RCV Id: RCV001461812 ; RCV002328767 ; RCV000266059
• dbSNP Id: rs878983731
• gnomAD v4: 2-178576106-A-G
• MyVariant Identifiers: chr2:g.179440833A>G (hg19) ; chr2:g.178576106A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178576106A>G , CM000664.2:g.178576106A>G	GRCh38
NC_000002.11:g.179440833A>G , CM000664.1:g.179440833A>G	GRCh37
NC_000002.10:g.179149079A>G	NCBI36
NG_011618.3:g.259697T>C , LRG_391:g.259697T>C
NG_051363.1:g.58280A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.62322T>C (TTN)	ENSP00000343764.6:p.Pro20774=
ENST00000342175.11:c.43407T>C (TTN)	ENSP00000340554.6:p.Pro14469=
ENST00000359218.10:c.43206T>C (TTN)	ENSP00000352154.5:p.Pro14402=
ENST00000342175.10:c.43407T>C (TTN)	ENSP00000340554.6:p.Pro14469=
ENST00000342992.10:c.62322T>C (TTN)	ENSP00000343764.6:p.Pro20774=
ENST00000359218.9:c.43206T>C (TTN)	ENSP00000352154.5:p.Pro14402=
ENST00000460472.6:c.42831T>C (TTN)	ENSP00000434586.1:p.Pro14277=
ENST00000589042.5:c.70026T>C (TTN) MANE Select	ENSP00000467141.1:p.Pro23342=
ENST00000591111.5:c.65103T>C (TTN)	ENSP00000465570.1:p.Pro21701=
ENST00000615779.4:c.65103T>C (TTN)	ENSP00000483597.1:p.Pro21701=
NM_001256850.1:c.65103T>C (TTN)	NP_001243779.1:p.Pro21701=
NM_001267550.2:c.70026T>C (TTN) MANE Select	NP_001254479.2:p.Pro23342=
NM_003319.4:c.42831T>C (TTN)	NP_003310.4:p.Pro14277=
NM_133378.4:c.62322T>C (TTN)	NP_596869.4:p.Pro20774=
NM_133432.3:c.43206T>C (TTN)	NP_597676.3:p.Pro14402=
NM_133437.4:c.43407T>C (TTN)	NP_597681.4:p.Pro14469=
NR_038271.1:n.596+4657A>G (TTN-AS1)
NR_038272.1:n.2044-6466A>G (TTN-AS1)
XM_011511729.1:c.69123T>C (TTN)	XP_011510031.1:p.Pro23041=
XM_011511730.1:c.43017T>C (TTN)	XP_011510032.1:p.Pro14339=
XM_011511731.1:c.42876T>C (TTN)	XP_011510033.1:p.Pro14292=
XM_017004819.1:c.68919T>C (TTN)	XP_016860308.1:p.Pro22973=
XM_017004820.1:c.64317T>C (TTN)	XP_016860309.1:p.Pro21439=
XM_017004821.1:c.64314T>C (TTN)	XP_016860310.1:p.Pro21438=
XM_017004822.1:c.61356T>C (TTN)	XP_016860311.1:p.Pro20452=
XM_017004823.1:c.42972T>C (TTN)	XP_016860312.1:p.Pro14324=
XM_024453094.1:c.64467T>C (TTN)	XP_024308862.1:p.Pro21489=
XM_024453095.1:c.64464T>C (TTN)	XP_024308863.1:p.Pro21488=
XM_024453096.1:c.63897T>C (TTN)	XP_024308864.1:p.Pro21299=
XM_024453097.1:c.61239T>C (TTN)	XP_024308865.1:p.Pro20413=
XM_024453098.1:c.61158T>C (TTN)	XP_024308866.1:p.Pro20386=
XM_024453099.1:c.42921T>C (TTN)	XP_024308867.1:p.Pro14307=
XM_024453100.1:c.32775T>C (TTN)	XP_024308868.1:p.Pro10925=