Canonical Allele Identifier: CA139791

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 47023
• ClinVar RCV Id: RCV000040293 ; RCV000578677 ; RCV002426574 ; RCV002513563
• dbSNP Id: rs397517594
• MyVariant Identifiers: chr2:g.179480029C>A (hg19) ; chr2:g.178615302C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178615302C>A , CM000664.2:g.178615302C>A	GRCh38
NC_000002.11:g.179480029C>A , CM000664.1:g.179480029C>A	GRCh37
NC_000002.10:g.179188274C>A	NCBI36
NG_011618.3:g.220501G>T , LRG_391:g.220501G>T
NG_051363.1:g.97476C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.40934+5G>T (TTN)	ENSP00000343764.6:n.40934+5G>T
ENST00000342175.11:c.22019+5G>T (TTN)	ENSP00000340554.6:n.22019+5G>T
ENST00000359218.10:c.21818+5G>T (TTN)	ENSP00000352154.5:n.21818+5G>T
ENST00000342175.10:c.22019+5G>T (TTN)	ENSP00000340554.6:n.22019+5G>T
ENST00000342992.10:c.40934+5G>T (TTN)	ENSP00000343764.6:n.40934+5G>T
ENST00000359218.9:c.21818+5G>T (TTN)	ENSP00000352154.5:n.21818+5G>T
ENST00000460472.6:c.21443+5G>T (TTN)	ENSP00000434586.1:n.21443+5G>T
ENST00000589042.5:c.48638+5G>T (TTN) MANE Select	ENSP00000467141.1:n.48638+5G>T
ENST00000591111.5:c.43715+5G>T (TTN)	ENSP00000465570.1:n.43715+5G>T
ENST00000615779.4:c.43715+5G>T (TTN)	ENSP00000483597.1:n.43715+5G>T
NM_001256850.1:c.43715+5G>T (TTN)	NP_001243779.1:n.43715+5G>T
NM_001267550.2:c.48638+5G>T (TTN) MANE Select	NP_001254479.2:n.48638+5G>T
NM_003319.4:c.21443+5G>T (TTN)	NP_003310.4:n.21443+5G>T
NM_133378.4:c.40934+5G>T (TTN)	NP_596869.4:n.40934+5G>T
NM_133432.3:c.21818+5G>T (TTN)	NP_597676.3:n.21818+5G>T
NM_133437.4:c.22019+5G>T (TTN)	NP_597681.4:n.22019+5G>T
NR_038271.1:n.1553-21C>A (TTN-AS1)
XM_011511729.1:c.47735+5G>T (TTN)	XP_011510031.1:n.47735+5G>T
XM_011511730.1:c.21629+5G>T (TTN)	XP_011510032.1:n.21629+5G>T
XM_011511731.1:c.21488+5G>T (TTN)	XP_011510033.1:n.21488+5G>T
XM_017004819.1:c.47531+5G>T (TTN)	XP_016860308.1:n.47531+5G>T
XM_017004820.1:c.42929+5G>T (TTN)	XP_016860309.1:n.42929+5G>T
XM_017004821.1:c.42926+5G>T (TTN)	XP_016860310.1:n.42926+5G>T
XM_017004822.1:c.39968+5G>T (TTN)	XP_016860311.1:n.39968+5G>T
XM_017004823.1:c.21584+5G>T (TTN)	XP_016860312.1:n.21584+5G>T
XM_024453094.1:c.43079+5G>T (TTN)	XP_024308862.1:n.43079+5G>T
XM_024453095.1:c.43076+5G>T (TTN)	XP_024308863.1:n.43076+5G>T
XM_024453096.1:c.42509+5G>T (TTN)	XP_024308864.1:n.42509+5G>T
XM_024453097.1:c.39851+5G>T (TTN)	XP_024308865.1:n.39851+5G>T
XM_024453098.1:c.39770+5G>T (TTN)	XP_024308866.1:n.39770+5G>T
XM_024453099.1:c.21533+5G>T (TTN)	XP_024308867.1:n.21533+5G>T
XM_024453100.1:c.11387+5G>T (TTN)	XP_024308868.1:n.11387+5G>T