Canonical Allele Identifier: CA349456533

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1755861
• ClinVar RCV Id: RCV002362169 ; RCV003138220
• dbSNP Id: rs1372238245
• gnomAD v2: 2-179409081-C-G
• gnomAD v3: 2-178544354-C-G
• gnomAD v4: 2-178544354-C-G
• MyVariant Identifiers: chr2:g.179409081C>G (hg19) ; chr2:g.178544354C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544354C>G , CM000664.2:g.178544354C>G	GRCh38
NC_000002.11:g.179409081C>G , CM000664.1:g.179409081C>G	GRCh37
NC_000002.10:g.179117327C>G	NCBI36
NG_011618.3:g.291449G>C , LRG_391:g.291449G>C
NG_051363.1:g.26528C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88171G>C (TTN)	ENSP00000343764.6:p.Val29391Leu
ENST00000342175.11:c.69256G>C (TTN)	ENSP00000340554.6:p.Val23086Leu
ENST00000359218.10:c.69055G>C (TTN)	ENSP00000352154.5:p.Val23019Leu
ENST00000342175.10:c.69256G>C (TTN)	ENSP00000340554.6:p.Val23086Leu
ENST00000342992.10:c.88171G>C (TTN)	ENSP00000343764.6:p.Val29391Leu
ENST00000359218.9:c.69055G>C (TTN)	ENSP00000352154.5:p.Val23019Leu
ENST00000460472.6:c.68680G>C (TTN)	ENSP00000434586.1:p.Val22894Leu
ENST00000589042.5:c.95875G>C (TTN) MANE Select	ENSP00000467141.1:p.Val31959Leu
ENST00000591111.5:c.90952G>C (TTN)	ENSP00000465570.1:p.Val30318Leu
ENST00000615779.4:c.90952G>C (TTN)	ENSP00000483597.1:p.Val30318Leu
NM_001256850.1:c.90952G>C (TTN)	NP_001243779.1:p.Val30318Leu
NM_001267550.2:c.95875G>C (TTN) MANE Select	NP_001254479.2:p.Val31959Leu
NM_003319.4:c.68680G>C (TTN)	NP_003310.4:p.Val22894Leu
NM_133378.4:c.88171G>C (TTN)	NP_596869.4:p.Val29391Leu
NM_133432.3:c.69055G>C (TTN)	NP_597676.3:p.Val23019Leu
NM_133437.4:c.69256G>C (TTN)	NP_597681.4:p.Val23086Leu
NR_038271.1:n.446+20718C>G (TTN-AS1)
NR_038272.1:n.2043+1993C>G (TTN-AS1)
XM_011511729.1:c.94972G>C (TTN)	XP_011510031.1:p.Val31658Leu
XM_011511730.1:c.68866G>C (TTN)	XP_011510032.1:p.Val22956Leu
XM_011511731.1:c.68725G>C (TTN)	XP_011510033.1:p.Val22909Leu
XM_017004819.1:c.94768G>C (TTN)	XP_016860308.1:p.Val31590Leu
XM_017004820.1:c.90166G>C (TTN)	XP_016860309.1:p.Val30056Leu
XM_017004821.1:c.90163G>C (TTN)	XP_016860310.1:p.Val30055Leu
XM_017004822.1:c.87205G>C (TTN)	XP_016860311.1:p.Val29069Leu
XM_017004823.1:c.68821G>C (TTN)	XP_016860312.1:p.Val22941Leu
XM_024453094.1:c.90316G>C (TTN)	XP_024308862.1:p.Val30106Leu
XM_024453095.1:c.90313G>C (TTN)	XP_024308863.1:p.Val30105Leu
XM_024453096.1:c.89746G>C (TTN)	XP_024308864.1:p.Val29916Leu
XM_024453097.1:c.87088G>C (TTN)	XP_024308865.1:p.Val29030Leu
XM_024453098.1:c.87007G>C (TTN)	XP_024308866.1:p.Val29003Leu
XM_024453099.1:c.68770G>C (TTN)	XP_024308867.1:p.Val22924Leu
XM_024453100.1:c.58624G>C (TTN)	XP_024308868.1:p.Val19542Leu