Canonical Allele Identifier: CA349434895

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1293701782
• gnomAD v3: 2-178540074-T-C
• gnomAD v4: 2-178540074-T-C
• MyVariant Identifiers: chr2:g.179404801T>C (hg19) ; chr2:g.178540074T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178540074T>C , CM000664.2:g.178540074T>C	GRCh38
NC_000002.11:g.179404801T>C , CM000664.1:g.179404801T>C	GRCh37
NC_000002.10:g.179113047T>C	NCBI36
NG_011618.3:g.295729A>G , LRG_391:g.295729A>G
NG_051363.1:g.22248T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.90388A>G (TTN)	ENSP00000343764.6:p.Met30130Val
ENST00000342175.11:c.71473A>G (TTN)	ENSP00000340554.6:p.Met23825Val
ENST00000359218.10:c.71272A>G (TTN)	ENSP00000352154.5:p.Met23758Val
ENST00000342175.10:c.71473A>G (TTN)	ENSP00000340554.6:p.Met23825Val
ENST00000342992.10:c.90388A>G (TTN)	ENSP00000343764.6:p.Met30130Val
ENST00000359218.9:c.71272A>G (TTN)	ENSP00000352154.5:p.Met23758Val
ENST00000460472.6:c.70897A>G (TTN)	ENSP00000434586.1:p.Met23633Val
ENST00000589042.5:c.98092A>G (TTN) MANE Select	ENSP00000467141.1:p.Met32698Val
ENST00000591111.5:c.93169A>G (TTN)	ENSP00000465570.1:p.Met31057Val
ENST00000615779.4:c.93169A>G (TTN)	ENSP00000483597.1:p.Met31057Val
NM_001256850.1:c.93169A>G (TTN)	NP_001243779.1:p.Met31057Val
NM_001267550.2:c.98092A>G (TTN) MANE Select	NP_001254479.2:p.Met32698Val
NM_003319.4:c.70897A>G (TTN)	NP_003310.4:p.Met23633Val
NM_133378.4:c.90388A>G (TTN)	NP_596869.4:p.Met30130Val
NM_133432.3:c.71272A>G (TTN)	NP_597676.3:p.Met23758Val
NM_133437.4:c.71473A>G (TTN)	NP_597681.4:p.Met23825Val
NR_038271.1:n.446+16438T>C (TTN-AS1)
NR_038272.1:n.1841-33T>C (TTN-AS1)
XM_011511729.1:c.97189A>G (TTN)	XP_011510031.1:p.Met32397Val
XM_011511730.1:c.71083A>G (TTN)	XP_011510032.1:p.Met23695Val
XM_011511731.1:c.70942A>G (TTN)	XP_011510033.1:p.Met23648Val
XM_017004819.1:c.96985A>G (TTN)	XP_016860308.1:p.Met32329Val
XM_017004820.1:c.92383A>G (TTN)	XP_016860309.1:p.Met30795Val
XM_017004821.1:c.92380A>G (TTN)	XP_016860310.1:p.Met30794Val
XM_017004822.1:c.89422A>G (TTN)	XP_016860311.1:p.Met29808Val
XM_017004823.1:c.71038A>G (TTN)	XP_016860312.1:p.Met23680Val
XM_024453094.1:c.92533A>G (TTN)	XP_024308862.1:p.Met30845Val
XM_024453095.1:c.92530A>G (TTN)	XP_024308863.1:p.Met30844Val
XM_024453096.1:c.91963A>G (TTN)	XP_024308864.1:p.Met30655Val
XM_024453097.1:c.89305A>G (TTN)	XP_024308865.1:p.Met29769Val
XM_024453098.1:c.89224A>G (TTN)	XP_024308866.1:p.Met29742Val
XM_024453099.1:c.70987A>G (TTN)	XP_024308867.1:p.Met23663Val
XM_024453100.1:c.60841A>G (TTN)	XP_024308868.1:p.Met20281Val