Canonical Allele Identifier: CA349406602

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs752846394
• gnomAD v2: 2-179395132-C-A
• gnomAD v4: 2-178530405-C-A
• MyVariant Identifiers: chr2:g.179395132C>A (hg19) ; chr2:g.178530405C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530405C>A , CM000664.2:g.178530405C>A	GRCh38
NC_000002.11:g.179395132C>A , CM000664.1:g.179395132C>A	GRCh37
NC_000002.10:g.179103378C>A	NCBI36
NG_011618.3:g.305398G>T , LRG_391:g.305398G>T
NG_051363.1:g.12579C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.98506G>T (TTN)	ENSP00000343764.6:p.Val32836Leu
ENST00000342175.11:c.79591G>T (TTN)	ENSP00000340554.6:p.Val26531Leu
ENST00000359218.10:c.79390G>T (TTN)	ENSP00000352154.5:p.Val26464Leu
ENST00000342175.10:c.79591G>T (TTN)	ENSP00000340554.6:p.Val26531Leu
ENST00000342992.10:c.98506G>T (TTN)	ENSP00000343764.6:p.Val32836Leu
ENST00000359218.9:c.79390G>T (TTN)	ENSP00000352154.5:p.Val26464Leu
ENST00000460472.6:c.79015G>T (TTN)	ENSP00000434586.1:p.Val26339Leu
ENST00000589042.5:c.106210G>T (TTN) MANE Select	ENSP00000467141.1:p.Val35404Leu
ENST00000591111.5:c.101287G>T (TTN)	ENSP00000465570.1:p.Val33763Leu
ENST00000615779.4:c.101287G>T (TTN)	ENSP00000483597.1:p.Val33763Leu
NM_001256850.1:c.101287G>T (TTN)	NP_001243779.1:p.Val33763Leu
NM_001267550.2:c.106210G>T (TTN) MANE Select	NP_001254479.2:p.Val35404Leu
NM_003319.4:c.79015G>T (TTN)	NP_003310.4:p.Val26339Leu
NM_133378.4:c.98506G>T (TTN)	NP_596869.4:p.Val32836Leu
NM_133432.3:c.79390G>T (TTN)	NP_597676.3:p.Val26464Leu
NM_133437.4:c.79591G>T (TTN)	NP_597681.4:p.Val26531Leu
NR_038271.1:n.446+6769C>A (TTN-AS1)
NR_038272.1:n.220-5327C>A (TTN-AS1)
XM_011511729.1:c.105307G>T (TTN)	XP_011510031.1:p.Val35103Leu
XM_011511730.1:c.79201G>T (TTN)	XP_011510032.1:p.Val26401Leu
XM_011511731.1:c.79060G>T (TTN)	XP_011510033.1:p.Val26354Leu
XM_017004819.1:c.105103G>T (TTN)	XP_016860308.1:p.Val35035Leu
XM_017004820.1:c.100501G>T (TTN)	XP_016860309.1:p.Val33501Leu
XM_017004821.1:c.100498G>T (TTN)	XP_016860310.1:p.Val33500Leu
XM_017004822.1:c.97540G>T (TTN)	XP_016860311.1:p.Val32514Leu
XM_017004823.1:c.79156G>T (TTN)	XP_016860312.1:p.Val26386Leu
XM_024453094.1:c.100651G>T (TTN)	XP_024308862.1:p.Val33551Leu
XM_024453095.1:c.100648G>T (TTN)	XP_024308863.1:p.Val33550Leu
XM_024453096.1:c.100081G>T (TTN)	XP_024308864.1:p.Val33361Leu
XM_024453097.1:c.97423G>T (TTN)	XP_024308865.1:p.Val32475Leu
XM_024453098.1:c.97342G>T (TTN)	XP_024308866.1:p.Val32448Leu
XM_024453099.1:c.79105G>T (TTN)	XP_024308867.1:p.Val26369Leu
XM_024453100.1:c.68959G>T (TTN)	XP_024308868.1:p.Val22987Leu