Canonical Allele Identifier: CA60988203

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs766831675
• gnomAD v4: 2-178564614-G-A
• MyVariant Identifiers: chr2:g.179429341G>A (hg19) ; chr2:g.178564614G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178564614G>A , CM000664.2:g.178564614G>A	GRCh38
NC_000002.11:g.179429341G>A , CM000664.1:g.179429341G>A	GRCh37
NC_000002.10:g.179137587G>A	NCBI36
NG_011618.3:g.271189C>T , LRG_391:g.271189C>T
NG_051363.1:g.46788G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.73814C>T (TTN)	ENSP00000343764.6:p.Pro24605Leu
ENST00000342175.11:c.54899C>T (TTN)	ENSP00000340554.6:p.Pro18300Leu
ENST00000359218.10:c.54698C>T (TTN)	ENSP00000352154.5:p.Pro18233Leu
ENST00000342175.10:c.54899C>T (TTN)	ENSP00000340554.6:p.Pro18300Leu
ENST00000342992.10:c.73814C>T (TTN)	ENSP00000343764.6:p.Pro24605Leu
ENST00000359218.9:c.54698C>T (TTN)	ENSP00000352154.5:p.Pro18233Leu
ENST00000460472.6:c.54323C>T (TTN)	ENSP00000434586.1:p.Pro18108Leu
ENST00000589042.5:c.81518C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro27173Leu
ENST00000591111.5:c.76595C>T (TTN)	ENSP00000465570.1:p.Pro25532Leu
ENST00000615779.4:c.76595C>T (TTN)	ENSP00000483597.1:p.Pro25532Leu
NM_001256850.1:c.76595C>T (TTN)	NP_001243779.1:p.Pro25532Leu
NM_001267550.2:c.81518C>T (TTN) MANE Select	NP_001254479.2:p.Pro27173Leu
NM_003319.4:c.54323C>T (TTN)	NP_003310.4:p.Pro18108Leu
NM_133378.4:c.73814C>T (TTN)	NP_596869.4:p.Pro24605Leu
NM_133432.3:c.54698C>T (TTN)	NP_597676.3:p.Pro18233Leu
NM_133437.4:c.54899C>T (TTN)	NP_597681.4:p.Pro18300Leu
NR_038271.1:n.447-6686G>A (TTN-AS1)
NR_038272.1:n.2044-17958G>A (TTN-AS1)
XM_011511729.1:c.80615C>T (TTN)	XP_011510031.1:p.Pro26872Leu
XM_011511730.1:c.54509C>T (TTN)	XP_011510032.1:p.Pro18170Leu
XM_011511731.1:c.54368C>T (TTN)	XP_011510033.1:p.Pro18123Leu
XM_017004819.1:c.80411C>T (TTN)	XP_016860308.1:p.Pro26804Leu
XM_017004820.1:c.75809C>T (TTN)	XP_016860309.1:p.Pro25270Leu
XM_017004821.1:c.75806C>T (TTN)	XP_016860310.1:p.Pro25269Leu
XM_017004822.1:c.72848C>T (TTN)	XP_016860311.1:p.Pro24283Leu
XM_017004823.1:c.54464C>T (TTN)	XP_016860312.1:p.Pro18155Leu
XM_024453094.1:c.75959C>T (TTN)	XP_024308862.1:p.Pro25320Leu
XM_024453095.1:c.75956C>T (TTN)	XP_024308863.1:p.Pro25319Leu
XM_024453096.1:c.75389C>T (TTN)	XP_024308864.1:p.Pro25130Leu
XM_024453097.1:c.72731C>T (TTN)	XP_024308865.1:p.Pro24244Leu
XM_024453098.1:c.72650C>T (TTN)	XP_024308866.1:p.Pro24217Leu
XM_024453099.1:c.54413C>T (TTN)	XP_024308867.1:p.Pro18138Leu
XM_024453100.1:c.44267C>T (TTN)	XP_024308868.1:p.Pro14756Leu