Canonical Allele Identifier: CA349407151

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1220665174
• gnomAD v3: 2-178530570-G-A
• gnomAD v4: 2-178530570-G-A
• MyVariant Identifiers: chr2:g.179395297G>A (hg19) ; chr2:g.178530570G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530570G>A , CM000664.2:g.178530570G>A	GRCh38
NC_000002.11:g.179395297G>A , CM000664.1:g.179395297G>A	GRCh37
NC_000002.10:g.179103543G>A	NCBI36
NG_011618.3:g.305233C>T , LRG_391:g.305233C>T
NG_051363.1:g.12744G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98341C>T (TTN)	ENSP00000343764.6:p.Leu32781Phe
ENST00000342175.11:c.79426C>T (TTN)	ENSP00000340554.6:p.Leu26476Phe
ENST00000359218.10:c.79225C>T (TTN)	ENSP00000352154.5:p.Leu26409Phe
ENST00000342175.10:c.79426C>T (TTN)	ENSP00000340554.6:p.Leu26476Phe
ENST00000342992.10:c.98341C>T (TTN)	ENSP00000343764.6:p.Leu32781Phe
ENST00000359218.9:c.79225C>T (TTN)	ENSP00000352154.5:p.Leu26409Phe
ENST00000460472.6:c.78850C>T (TTN)	ENSP00000434586.1:p.Leu26284Phe
ENST00000589042.5:c.106045C>T (TTN) MANE Select	ENSP00000467141.1:p.Leu35349Phe
ENST00000591111.5:c.101122C>T (TTN)	ENSP00000465570.1:p.Leu33708Phe
ENST00000615779.4:c.101122C>T (TTN)	ENSP00000483597.1:p.Leu33708Phe
NM_001256850.1:c.101122C>T (TTN)	NP_001243779.1:p.Leu33708Phe
NM_001267550.2:c.106045C>T (TTN) MANE Select	NP_001254479.2:p.Leu35349Phe
NM_003319.4:c.78850C>T (TTN)	NP_003310.4:p.Leu26284Phe
NM_133378.4:c.98341C>T (TTN)	NP_596869.4:p.Leu32781Phe
NM_133432.3:c.79225C>T (TTN)	NP_597676.3:p.Leu26409Phe
NM_133437.4:c.79426C>T (TTN)	NP_597681.4:p.Leu26476Phe
NR_038271.1:n.446+6934G>A (TTN-AS1)
NR_038272.1:n.220-5162G>A (TTN-AS1)
XM_011511729.1:c.105142C>T (TTN)	XP_011510031.1:p.Leu35048Phe
XM_011511730.1:c.79036C>T (TTN)	XP_011510032.1:p.Leu26346Phe
XM_011511731.1:c.78895C>T (TTN)	XP_011510033.1:p.Leu26299Phe
XM_017004819.1:c.104938C>T (TTN)	XP_016860308.1:p.Leu34980Phe
XM_017004820.1:c.100336C>T (TTN)	XP_016860309.1:p.Leu33446Phe
XM_017004821.1:c.100333C>T (TTN)	XP_016860310.1:p.Leu33445Phe
XM_017004822.1:c.97375C>T (TTN)	XP_016860311.1:p.Leu32459Phe
XM_017004823.1:c.78991C>T (TTN)	XP_016860312.1:p.Leu26331Phe
XM_024453094.1:c.100486C>T (TTN)	XP_024308862.1:p.Leu33496Phe
XM_024453095.1:c.100483C>T (TTN)	XP_024308863.1:p.Leu33495Phe
XM_024453096.1:c.99916C>T (TTN)	XP_024308864.1:p.Leu33306Phe
XM_024453097.1:c.97258C>T (TTN)	XP_024308865.1:p.Leu32420Phe
XM_024453098.1:c.97177C>T (TTN)	XP_024308866.1:p.Leu32393Phe
XM_024453099.1:c.78940C>T (TTN)	XP_024308867.1:p.Leu26314Phe
XM_024453100.1:c.68794C>T (TTN)	XP_024308868.1:p.Leu22932Phe