Canonical Allele Identifier: CA349451257

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1375176606
• gnomAD v2: 2-179408657-C-G
• gnomAD v4: 2-178543930-C-G
• MyVariant Identifiers: chr2:g.179408657C>G (hg19) ; chr2:g.178543930C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543930C>G , CM000664.2:g.178543930C>G	GRCh38
NC_000002.11:g.179408657C>G , CM000664.1:g.179408657C>G	GRCh37
NC_000002.10:g.179116903C>G	NCBI36
NG_011618.3:g.291873G>C , LRG_391:g.291873G>C
NG_051363.1:g.26104C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88510G>C (TTN)	ENSP00000343764.6:p.Val29504Leu
ENST00000342175.11:c.69595G>C (TTN)	ENSP00000340554.6:p.Val23199Leu
ENST00000359218.10:c.69394G>C (TTN)	ENSP00000352154.5:p.Val23132Leu
ENST00000342175.10:c.69595G>C (TTN)	ENSP00000340554.6:p.Val23199Leu
ENST00000342992.10:c.88510G>C (TTN)	ENSP00000343764.6:p.Val29504Leu
ENST00000359218.9:c.69394G>C (TTN)	ENSP00000352154.5:p.Val23132Leu
ENST00000460472.6:c.69019G>C (TTN)	ENSP00000434586.1:p.Val23007Leu
ENST00000589042.5:c.96214G>C (TTN) MANE Select	ENSP00000467141.1:p.Val32072Leu
ENST00000591111.5:c.91291G>C (TTN)	ENSP00000465570.1:p.Val30431Leu
ENST00000615779.4:c.91291G>C (TTN)	ENSP00000483597.1:p.Val30431Leu
NM_001256850.1:c.91291G>C (TTN)	NP_001243779.1:p.Val30431Leu
NM_001267550.2:c.96214G>C (TTN) MANE Select	NP_001254479.2:p.Val32072Leu
NM_003319.4:c.69019G>C (TTN)	NP_003310.4:p.Val23007Leu
NM_133378.4:c.88510G>C (TTN)	NP_596869.4:p.Val29504Leu
NM_133432.3:c.69394G>C (TTN)	NP_597676.3:p.Val23132Leu
NM_133437.4:c.69595G>C (TTN)	NP_597681.4:p.Val23199Leu
NR_038271.1:n.446+20294C>G (TTN-AS1)
NR_038272.1:n.2043+1569C>G (TTN-AS1)
XM_011511729.1:c.95311G>C (TTN)	XP_011510031.1:p.Val31771Leu
XM_011511730.1:c.69205G>C (TTN)	XP_011510032.1:p.Val23069Leu
XM_011511731.1:c.69064G>C (TTN)	XP_011510033.1:p.Val23022Leu
XM_017004819.1:c.95107G>C (TTN)	XP_016860308.1:p.Val31703Leu
XM_017004820.1:c.90505G>C (TTN)	XP_016860309.1:p.Val30169Leu
XM_017004821.1:c.90502G>C (TTN)	XP_016860310.1:p.Val30168Leu
XM_017004822.1:c.87544G>C (TTN)	XP_016860311.1:p.Val29182Leu
XM_017004823.1:c.69160G>C (TTN)	XP_016860312.1:p.Val23054Leu
XM_024453094.1:c.90655G>C (TTN)	XP_024308862.1:p.Val30219Leu
XM_024453095.1:c.90652G>C (TTN)	XP_024308863.1:p.Val30218Leu
XM_024453096.1:c.90085G>C (TTN)	XP_024308864.1:p.Val30029Leu
XM_024453097.1:c.87427G>C (TTN)	XP_024308865.1:p.Val29143Leu
XM_024453098.1:c.87346G>C (TTN)	XP_024308866.1:p.Val29116Leu
XM_024453099.1:c.69109G>C (TTN)	XP_024308867.1:p.Val23037Leu
XM_024453100.1:c.58963G>C (TTN)	XP_024308868.1:p.Val19655Leu