Canonical Allele Identifier: CA349496718

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457796G>C (hg19) ; chr2:g.178593069G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593069G>C , CM000664.2:g.178593069G>C	GRCh38
NC_000002.11:g.179457796G>C , CM000664.1:g.179457796G>C	GRCh37
NC_000002.10:g.179166042G>C	NCBI36
NG_011618.3:g.242734C>G , LRG_391:g.242734C>G
NG_051363.1:g.75243G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51346C>G (TTN)	ENSP00000343764.6:p.Pro17116Ala
ENST00000342175.11:c.32431C>G (TTN)	ENSP00000340554.6:p.Pro10811Ala
ENST00000359218.10:c.32230C>G (TTN)	ENSP00000352154.5:p.Pro10744Ala
ENST00000342175.10:c.32431C>G (TTN)	ENSP00000340554.6:p.Pro10811Ala
ENST00000342992.10:c.51346C>G (TTN)	ENSP00000343764.6:p.Pro17116Ala
ENST00000359218.9:c.32230C>G (TTN)	ENSP00000352154.5:p.Pro10744Ala
ENST00000460472.6:c.31855C>G (TTN)	ENSP00000434586.1:p.Pro10619Ala
ENST00000589042.5:c.59050C>G (TTN) MANE Select	ENSP00000467141.1:p.Pro19684Ala
ENST00000591111.5:c.54127C>G (TTN)	ENSP00000465570.1:p.Pro18043Ala
ENST00000615779.4:c.54127C>G (TTN)	ENSP00000483597.1:p.Pro18043Ala
NM_001256850.1:c.54127C>G (TTN)	NP_001243779.1:p.Pro18043Ala
NM_001267550.2:c.59050C>G (TTN) MANE Select	NP_001254479.2:p.Pro19684Ala
NM_003319.4:c.31855C>G (TTN)	NP_003310.4:p.Pro10619Ala
NM_133378.4:c.51346C>G (TTN)	NP_596869.4:p.Pro17116Ala
NM_133432.3:c.32230C>G (TTN)	NP_597676.3:p.Pro10744Ala
NM_133437.4:c.32431C>G (TTN)	NP_597681.4:p.Pro10811Ala
NR_038271.1:n.597-4527G>C (TTN-AS1)
NR_038272.1:n.3364+1755G>C (TTN-AS1)
XM_011511729.1:c.58147C>G (TTN)	XP_011510031.1:p.Pro19383Ala
XM_011511730.1:c.32041C>G (TTN)	XP_011510032.1:p.Pro10681Ala
XM_011511731.1:c.31900C>G (TTN)	XP_011510033.1:p.Pro10634Ala
XM_017004819.1:c.57943C>G (TTN)	XP_016860308.1:p.Pro19315Ala
XM_017004820.1:c.53341C>G (TTN)	XP_016860309.1:p.Pro17781Ala
XM_017004821.1:c.53338C>G (TTN)	XP_016860310.1:p.Pro17780Ala
XM_017004822.1:c.50380C>G (TTN)	XP_016860311.1:p.Pro16794Ala
XM_017004823.1:c.31996C>G (TTN)	XP_016860312.1:p.Pro10666Ala
XM_024453094.1:c.53491C>G (TTN)	XP_024308862.1:p.Pro17831Ala
XM_024453095.1:c.53488C>G (TTN)	XP_024308863.1:p.Pro17830Ala
XM_024453096.1:c.52921C>G (TTN)	XP_024308864.1:p.Pro17641Ala
XM_024453097.1:c.50263C>G (TTN)	XP_024308865.1:p.Pro16755Ala
XM_024453098.1:c.50182C>G (TTN)	XP_024308866.1:p.Pro16728Ala
XM_024453099.1:c.31945C>G (TTN)	XP_024308867.1:p.Pro10649Ala
XM_024453100.1:c.21799C>G (TTN)	XP_024308868.1:p.Pro7267Ala