Canonical Allele Identifier: CA349398680

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2437894
• ClinVar RCV Id: RCV003137060
• MyVariant Identifiers: chr2:g.179391864C>T (hg19) ; chr2:g.178527137C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527137C>T , CM000664.2:g.178527137C>T	GRCh38
NC_000002.11:g.179391864C>T , CM000664.1:g.179391864C>T	GRCh37
NC_000002.10:g.179100110C>T	NCBI36
NG_011618.3:g.308666G>A , LRG_391:g.308666G>A
NG_051363.1:g.9311C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.100147G>A (TTN)	ENSP00000343764.6:p.Asp33383Asn
ENST00000342175.11:c.81232G>A (TTN)	ENSP00000340554.6:p.Asp27078Asn
ENST00000359218.10:c.81031G>A (TTN)	ENSP00000352154.5:p.Asp27011Asn
ENST00000342175.10:c.81232G>A (TTN)	ENSP00000340554.6:p.Asp27078Asn
ENST00000342992.10:c.100147G>A (TTN)	ENSP00000343764.6:p.Asp33383Asn
ENST00000359218.9:c.81031G>A (TTN)	ENSP00000352154.5:p.Asp27011Asn
ENST00000460472.6:c.80656G>A (TTN)	ENSP00000434586.1:p.Asp26886Asn
ENST00000589042.5:c.107851G>A (TTN) MANE Select	ENSP00000467141.1:p.Asp35951Asn
ENST00000591111.5:c.102928G>A (TTN)	ENSP00000465570.1:p.Asp34310Asn
ENST00000615779.4:c.102928G>A (TTN)	ENSP00000483597.1:p.Asp34310Asn
NM_001256850.1:c.102928G>A (TTN)	NP_001243779.1:p.Asp34310Asn
NM_001267550.2:c.107851G>A (TTN) MANE Select	NP_001254479.2:p.Asp35951Asn
NM_003319.4:c.80656G>A (TTN)	NP_003310.4:p.Asp26886Asn
NM_133378.4:c.100147G>A (TTN)	NP_596869.4:p.Asp33383Asn
NM_133432.3:c.81031G>A (TTN)	NP_597676.3:p.Asp27011Asn
NM_133437.4:c.81232G>A (TTN)	NP_597681.4:p.Asp27078Asn
NR_038271.1:n.446+3501C>T (TTN-AS1)
NR_038272.1:n.219+3501C>T (TTN-AS1)
XM_011511729.1:c.106948G>A (TTN)	XP_011510031.1:p.Asp35650Asn
XM_011511730.1:c.80842G>A (TTN)	XP_011510032.1:p.Asp26948Asn
XM_011511731.1:c.80701G>A (TTN)	XP_011510033.1:p.Asp26901Asn
XM_017004819.1:c.106744G>A (TTN)	XP_016860308.1:p.Asp35582Asn
XM_017004820.1:c.102142G>A (TTN)	XP_016860309.1:p.Asp34048Asn
XM_017004821.1:c.102139G>A (TTN)	XP_016860310.1:p.Asp34047Asn
XM_017004822.1:c.99181G>A (TTN)	XP_016860311.1:p.Asp33061Asn
XM_017004823.1:c.80797G>A (TTN)	XP_016860312.1:p.Asp26933Asn
XM_024453094.1:c.102292G>A (TTN)	XP_024308862.1:p.Asp34098Asn
XM_024453095.1:c.102289G>A (TTN)	XP_024308863.1:p.Asp34097Asn
XM_024453096.1:c.101722G>A (TTN)	XP_024308864.1:p.Asp33908Asn
XM_024453097.1:c.99064G>A (TTN)	XP_024308865.1:p.Asp33022Asn
XM_024453098.1:c.98983G>A (TTN)	XP_024308866.1:p.Asp32995Asn
XM_024453099.1:c.80746G>A (TTN)	XP_024308867.1:p.Asp26916Asn
XM_024453100.1:c.70600G>A (TTN)	XP_024308868.1:p.Asp23534Asn