Canonical Allele Identifier: CA1993105

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs775891463
• ExAC: 2:179463185 T / G
• gnomAD v2: 2-179463185-T-G
• gnomAD v4: 2-178598458-T-G
• MyVariant Identifiers: chr2:g.179463185T>G (hg19) ; chr2:g.178598458T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178598458T>G , CM000664.2:g.178598458T>G	GRCh38
NC_000002.11:g.179463185T>G , CM000664.1:g.179463185T>G	GRCh37
NC_000002.10:g.179171430T>G	NCBI36
NG_011618.3:g.237345A>C , LRG_391:g.237345A>C
NG_051363.1:g.80632T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.49407+48A>C (TTN)	ENSP00000343764.6:n.49407+48A>C
ENST00000342175.11:c.30492+48A>C (TTN)	ENSP00000340554.6:n.30492+48A>C
ENST00000359218.10:c.30291+48A>C (TTN)	ENSP00000352154.5:n.30291+48A>C
ENST00000342175.10:c.30492+48A>C (TTN)	ENSP00000340554.6:n.30492+48A>C
ENST00000342992.10:c.49407+48A>C (TTN)	ENSP00000343764.6:n.49407+48A>C
ENST00000359218.9:c.30291+48A>C (TTN)	ENSP00000352154.5:n.30291+48A>C
ENST00000460472.6:c.29916+48A>C (TTN)	ENSP00000434586.1:n.29916+48A>C
ENST00000589042.5:c.57111+48A>C (TTN) MANE Select	ENSP00000467141.1:n.57111+48A>C
ENST00000591111.5:c.52188+48A>C (TTN)	ENSP00000465570.1:n.52188+48A>C
ENST00000615779.4:c.52188+48A>C (TTN)	ENSP00000483597.1:n.52188+48A>C
NM_001256850.1:c.52188+48A>C (TTN)	NP_001243779.1:n.52188+48A>C
NM_001267550.2:c.57111+48A>C (TTN) MANE Select	NP_001254479.2:n.57111+48A>C
NM_003319.4:c.29916+48A>C (TTN)	NP_003310.4:n.29916+48A>C
NM_133378.4:c.49407+48A>C (TTN)	NP_596869.4:n.49407+48A>C
NM_133432.3:c.30291+48A>C (TTN)	NP_597676.3:n.30291+48A>C
NM_133437.4:c.30492+48A>C (TTN)	NP_597681.4:n.30492+48A>C
NR_038271.1:n.682+777T>G (TTN-AS1)
NR_038272.1:n.3451-98T>G (TTN-AS1)
XM_011511729.1:c.56208+48A>C (TTN)	XP_011510031.1:n.56208+48A>C
XM_011511730.1:c.30102+48A>C (TTN)	XP_011510032.1:n.30102+48A>C
XM_011511731.1:c.29961+48A>C (TTN)	XP_011510033.1:n.29961+48A>C
XM_017004819.1:c.56004+48A>C (TTN)	XP_016860308.1:n.56004+48A>C
XM_017004820.1:c.51402+48A>C (TTN)	XP_016860309.1:n.51402+48A>C
XM_017004821.1:c.51399+48A>C (TTN)	XP_016860310.1:n.51399+48A>C
XM_017004822.1:c.48441+48A>C (TTN)	XP_016860311.1:n.48441+48A>C
XM_017004823.1:c.30057+48A>C (TTN)	XP_016860312.1:n.30057+48A>C
XM_024453094.1:c.51552+48A>C (TTN)	XP_024308862.1:n.51552+48A>C
XM_024453095.1:c.51549+48A>C (TTN)	XP_024308863.1:n.51549+48A>C
XM_024453096.1:c.50982+48A>C (TTN)	XP_024308864.1:n.50982+48A>C
XM_024453097.1:c.48324+48A>C (TTN)	XP_024308865.1:n.48324+48A>C
XM_024453098.1:c.48243+48A>C (TTN)	XP_024308866.1:n.48243+48A>C
XM_024453099.1:c.30006+48A>C (TTN)	XP_024308867.1:n.30006+48A>C
XM_024453100.1:c.19860+48A>C (TTN)	XP_024308868.1:n.19860+48A>C