Canonical Allele Identifier: CA349428161

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1692241113
• gnomAD v3: 2-178537701-C-G
• gnomAD v4: 2-178537701-C-G
• MyVariant Identifiers: chr2:g.179402428C>G (hg19) ; chr2:g.178537701C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537701C>G , CM000664.2:g.178537701C>G	GRCh38
NC_000002.11:g.179402428C>G , CM000664.1:g.179402428C>G	GRCh37
NC_000002.10:g.179110674C>G	NCBI36
NG_011618.3:g.298102G>C , LRG_391:g.298102G>C
NG_051363.1:g.19875C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.91802G>C (TTN)	ENSP00000343764.6:p.Gly30601Ala
ENST00000342175.11:c.72887G>C (TTN)	ENSP00000340554.6:p.Gly24296Ala
ENST00000359218.10:c.72686G>C (TTN)	ENSP00000352154.5:p.Gly24229Ala
ENST00000342175.10:c.72887G>C (TTN)	ENSP00000340554.6:p.Gly24296Ala
ENST00000342992.10:c.91802G>C (TTN)	ENSP00000343764.6:p.Gly30601Ala
ENST00000359218.9:c.72686G>C (TTN)	ENSP00000352154.5:p.Gly24229Ala
ENST00000460472.6:c.72311G>C (TTN)	ENSP00000434586.1:p.Gly24104Ala
ENST00000589042.5:c.99506G>C (TTN) MANE Select	ENSP00000467141.1:p.Gly33169Ala
ENST00000591111.5:c.94583G>C (TTN)	ENSP00000465570.1:p.Gly31528Ala
ENST00000615779.4:c.94583G>C (TTN)	ENSP00000483597.1:p.Gly31528Ala
NM_001256850.1:c.94583G>C (TTN)	NP_001243779.1:p.Gly31528Ala
NM_001267550.2:c.99506G>C (TTN) MANE Select	NP_001254479.2:p.Gly33169Ala
NM_003319.4:c.72311G>C (TTN)	NP_003310.4:p.Gly24104Ala
NM_133378.4:c.91802G>C (TTN)	NP_596869.4:p.Gly30601Ala
NM_133432.3:c.72686G>C (TTN)	NP_597676.3:p.Gly24229Ala
NM_133437.4:c.72887G>C (TTN)	NP_597681.4:p.Gly24296Ala
NR_038271.1:n.446+14065C>G (TTN-AS1)
NR_038272.1:n.647+10C>G (TTN-AS1)
XM_011511729.1:c.98603G>C (TTN)	XP_011510031.1:p.Gly32868Ala
XM_011511730.1:c.72497G>C (TTN)	XP_011510032.1:p.Gly24166Ala
XM_011511731.1:c.72356G>C (TTN)	XP_011510033.1:p.Gly24119Ala
XM_017004819.1:c.98399G>C (TTN)	XP_016860308.1:p.Gly32800Ala
XM_017004820.1:c.93797G>C (TTN)	XP_016860309.1:p.Gly31266Ala
XM_017004821.1:c.93794G>C (TTN)	XP_016860310.1:p.Gly31265Ala
XM_017004822.1:c.90836G>C (TTN)	XP_016860311.1:p.Gly30279Ala
XM_017004823.1:c.72452G>C (TTN)	XP_016860312.1:p.Gly24151Ala
XM_024453094.1:c.93947G>C (TTN)	XP_024308862.1:p.Gly31316Ala
XM_024453095.1:c.93944G>C (TTN)	XP_024308863.1:p.Gly31315Ala
XM_024453096.1:c.93377G>C (TTN)	XP_024308864.1:p.Gly31126Ala
XM_024453097.1:c.90719G>C (TTN)	XP_024308865.1:p.Gly30240Ala
XM_024453098.1:c.90638G>C (TTN)	XP_024308866.1:p.Gly30213Ala
XM_024453099.1:c.72401G>C (TTN)	XP_024308867.1:p.Gly24134Ala
XM_024453100.1:c.62255G>C (TTN)	XP_024308868.1:p.Gly20752Ala