Canonical Allele Identifier: CA1986855

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs745900975
• ExAC: 2:179409042 C / T
• gnomAD v2: 2-179409042-C-T
• gnomAD v4: 2-178544315-C-T
• MyVariant Identifiers: chr2:g.179409042C>T (hg19) ; chr2:g.178544315C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544315C>T , CM000664.2:g.178544315C>T	GRCh38
NC_000002.11:g.179409042C>T , CM000664.1:g.179409042C>T	GRCh37
NC_000002.10:g.179117288C>T	NCBI36
NG_011618.3:g.291488G>A , LRG_391:g.291488G>A
NG_051363.1:g.26489C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.88210G>A (TTN)	ENSP00000343764.6:p.Val29404Met
ENST00000342175.11:c.69295G>A (TTN)	ENSP00000340554.6:p.Val23099Met
ENST00000359218.10:c.69094G>A (TTN)	ENSP00000352154.5:p.Val23032Met
ENST00000342175.10:c.69295G>A (TTN)	ENSP00000340554.6:p.Val23099Met
ENST00000342992.10:c.88210G>A (TTN)	ENSP00000343764.6:p.Val29404Met
ENST00000359218.9:c.69094G>A (TTN)	ENSP00000352154.5:p.Val23032Met
ENST00000460472.6:c.68719G>A (TTN)	ENSP00000434586.1:p.Val22907Met
ENST00000589042.5:c.95914G>A (TTN) MANE Select	ENSP00000467141.1:p.Val31972Met
ENST00000591111.5:c.90991G>A (TTN)	ENSP00000465570.1:p.Val30331Met
ENST00000615779.4:c.90991G>A (TTN)	ENSP00000483597.1:p.Val30331Met
NM_001256850.1:c.90991G>A (TTN)	NP_001243779.1:p.Val30331Met
NM_001267550.2:c.95914G>A (TTN) MANE Select	NP_001254479.2:p.Val31972Met
NM_003319.4:c.68719G>A (TTN)	NP_003310.4:p.Val22907Met
NM_133378.4:c.88210G>A (TTN)	NP_596869.4:p.Val29404Met
NM_133432.3:c.69094G>A (TTN)	NP_597676.3:p.Val23032Met
NM_133437.4:c.69295G>A (TTN)	NP_597681.4:p.Val23099Met
NR_038271.1:n.446+20679C>T (TTN-AS1)
NR_038272.1:n.2043+1954C>T (TTN-AS1)
XM_011511729.1:c.95011G>A (TTN)	XP_011510031.1:p.Val31671Met
XM_011511730.1:c.68905G>A (TTN)	XP_011510032.1:p.Val22969Met
XM_011511731.1:c.68764G>A (TTN)	XP_011510033.1:p.Val22922Met
XM_017004819.1:c.94807G>A (TTN)	XP_016860308.1:p.Val31603Met
XM_017004820.1:c.90205G>A (TTN)	XP_016860309.1:p.Val30069Met
XM_017004821.1:c.90202G>A (TTN)	XP_016860310.1:p.Val30068Met
XM_017004822.1:c.87244G>A (TTN)	XP_016860311.1:p.Val29082Met
XM_017004823.1:c.68860G>A (TTN)	XP_016860312.1:p.Val22954Met
XM_024453094.1:c.90355G>A (TTN)	XP_024308862.1:p.Val30119Met
XM_024453095.1:c.90352G>A (TTN)	XP_024308863.1:p.Val30118Met
XM_024453096.1:c.89785G>A (TTN)	XP_024308864.1:p.Val29929Met
XM_024453097.1:c.87127G>A (TTN)	XP_024308865.1:p.Val29043Met
XM_024453098.1:c.87046G>A (TTN)	XP_024308866.1:p.Val29016Met
XM_024453099.1:c.68809G>A (TTN)	XP_024308867.1:p.Val22937Met
XM_024453100.1:c.58663G>A (TTN)	XP_024308868.1:p.Val19555Met