Canonical Allele Identifier: CA349568905

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs2055227112
• gnomAD v3: 2-178607680-G-T
• gnomAD v4: 2-178607680-G-T
• MyVariant Identifiers: chr2:g.179472407G>T (hg19) ; chr2:g.178607680G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178607680G>T , CM000664.2:g.178607680G>T	GRCh38
NC_000002.11:g.179472407G>T , CM000664.1:g.179472407G>T	GRCh37
NC_000002.10:g.179180652G>T	NCBI36
NG_011618.3:g.228123C>A , LRG_391:g.228123C>A
NG_051363.1:g.89854G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.45304C>A (TTN)	ENSP00000343764.6:p.Pro15102Thr
ENST00000342175.11:c.26389C>A (TTN)	ENSP00000340554.6:p.Pro8797Thr
ENST00000359218.10:c.26188C>A (TTN)	ENSP00000352154.5:p.Pro8730Thr
ENST00000342175.10:c.26389C>A (TTN)	ENSP00000340554.6:p.Pro8797Thr
ENST00000342992.10:c.45304C>A (TTN)	ENSP00000343764.6:p.Pro15102Thr
ENST00000359218.9:c.26188C>A (TTN)	ENSP00000352154.5:p.Pro8730Thr
ENST00000460472.6:c.25813C>A (TTN)	ENSP00000434586.1:p.Pro8605Thr
ENST00000589042.5:c.53008C>A (TTN) MANE Select	ENSP00000467141.1:p.Pro17670Thr
ENST00000591111.5:c.48085C>A (TTN)	ENSP00000465570.1:p.Pro16029Thr
ENST00000615779.4:c.48085C>A (TTN)	ENSP00000483597.1:p.Pro16029Thr
NM_001256850.1:c.48085C>A (TTN)	NP_001243779.1:p.Pro16029Thr
NM_001267550.2:c.53008C>A (TTN) MANE Select	NP_001254479.2:p.Pro17670Thr
NM_003319.4:c.25813C>A (TTN)	NP_003310.4:p.Pro8605Thr
NM_133378.4:c.45304C>A (TTN)	NP_596869.4:p.Pro15102Thr
NM_133432.3:c.26188C>A (TTN)	NP_597676.3:p.Pro8730Thr
NM_133437.4:c.26389C>A (TTN)	NP_597681.4:p.Pro8797Thr
NR_038271.1:n.683-487G>T (TTN-AS1)
XM_011511729.1:c.52105C>A (TTN)	XP_011510031.1:p.Pro17369Thr
XM_011511730.1:c.25999C>A (TTN)	XP_011510032.1:p.Pro8667Thr
XM_011511731.1:c.25858C>A (TTN)	XP_011510033.1:p.Pro8620Thr
XM_017004819.1:c.51901C>A (TTN)	XP_016860308.1:p.Pro17301Thr
XM_017004820.1:c.47299C>A (TTN)	XP_016860309.1:p.Pro15767Thr
XM_017004821.1:c.47296C>A (TTN)	XP_016860310.1:p.Pro15766Thr
XM_017004822.1:c.44338C>A (TTN)	XP_016860311.1:p.Pro14780Thr
XM_017004823.1:c.25954C>A (TTN)	XP_016860312.1:p.Pro8652Thr
XM_024453094.1:c.47449C>A (TTN)	XP_024308862.1:p.Pro15817Thr
XM_024453095.1:c.47446C>A (TTN)	XP_024308863.1:p.Pro15816Thr
XM_024453096.1:c.46879C>A (TTN)	XP_024308864.1:p.Pro15627Thr
XM_024453097.1:c.44221C>A (TTN)	XP_024308865.1:p.Pro14741Thr
XM_024453098.1:c.44140C>A (TTN)	XP_024308866.1:p.Pro14714Thr
XM_024453099.1:c.25903C>A (TTN)	XP_024308867.1:p.Pro8635Thr
XM_024453100.1:c.15757C>A (TTN)	XP_024308868.1:p.Pro5253Thr