Canonical Allele Identifier: CA349600580

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1201085993
• gnomAD v2: 2-179431936-C-G
• gnomAD v4: 2-178567209-C-G
• MyVariant Identifiers: chr2:g.179431936C>G (hg19) ; chr2:g.178567209C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178567209C>G , CM000664.2:g.178567209C>G	GRCh38
NC_000002.11:g.179431936C>G , CM000664.1:g.179431936C>G	GRCh37
NC_000002.10:g.179140182C>G	NCBI36
NG_011618.3:g.268594G>C , LRG_391:g.268594G>C
NG_051363.1:g.49383C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.71219G>C (TTN)	ENSP00000343764.6:p.Trp23740Ser
ENST00000342175.11:c.52304G>C (TTN)	ENSP00000340554.6:p.Trp17435Ser
ENST00000359218.10:c.52103G>C (TTN)	ENSP00000352154.5:p.Trp17368Ser
ENST00000342175.10:c.52304G>C (TTN)	ENSP00000340554.6:p.Trp17435Ser
ENST00000342992.10:c.71219G>C (TTN)	ENSP00000343764.6:p.Trp23740Ser
ENST00000359218.9:c.52103G>C (TTN)	ENSP00000352154.5:p.Trp17368Ser
ENST00000460472.6:c.51728G>C (TTN)	ENSP00000434586.1:p.Trp17243Ser
ENST00000589042.5:c.78923G>C (TTN) MANE Select	ENSP00000467141.1:p.Trp26308Ser
ENST00000591111.5:c.74000G>C (TTN)	ENSP00000465570.1:p.Trp24667Ser
ENST00000615779.4:c.74000G>C (TTN)	ENSP00000483597.1:p.Trp24667Ser
NM_001256850.1:c.74000G>C (TTN)	NP_001243779.1:p.Trp24667Ser
NM_001267550.2:c.78923G>C (TTN) MANE Select	NP_001254479.2:p.Trp26308Ser
NM_003319.4:c.51728G>C (TTN)	NP_003310.4:p.Trp17243Ser
NM_133378.4:c.71219G>C (TTN)	NP_596869.4:p.Trp23740Ser
NM_133432.3:c.52103G>C (TTN)	NP_597676.3:p.Trp17368Ser
NM_133437.4:c.52304G>C (TTN)	NP_597681.4:p.Trp17435Ser
NR_038271.1:n.447-4091C>G (TTN-AS1)
NR_038272.1:n.2044-15363C>G (TTN-AS1)
XM_011511729.1:c.78020G>C (TTN)	XP_011510031.1:p.Trp26007Ser
XM_011511730.1:c.51914G>C (TTN)	XP_011510032.1:p.Trp17305Ser
XM_011511731.1:c.51773G>C (TTN)	XP_011510033.1:p.Trp17258Ser
XM_017004819.1:c.77816G>C (TTN)	XP_016860308.1:p.Trp25939Ser
XM_017004820.1:c.73214G>C (TTN)	XP_016860309.1:p.Trp24405Ser
XM_017004821.1:c.73211G>C (TTN)	XP_016860310.1:p.Trp24404Ser
XM_017004822.1:c.70253G>C (TTN)	XP_016860311.1:p.Trp23418Ser
XM_017004823.1:c.51869G>C (TTN)	XP_016860312.1:p.Trp17290Ser
XM_024453094.1:c.73364G>C (TTN)	XP_024308862.1:p.Trp24455Ser
XM_024453095.1:c.73361G>C (TTN)	XP_024308863.1:p.Trp24454Ser
XM_024453096.1:c.72794G>C (TTN)	XP_024308864.1:p.Trp24265Ser
XM_024453097.1:c.70136G>C (TTN)	XP_024308865.1:p.Trp23379Ser
XM_024453098.1:c.70055G>C (TTN)	XP_024308866.1:p.Trp23352Ser
XM_024453099.1:c.51818G>C (TTN)	XP_024308867.1:p.Trp17273Ser
XM_024453100.1:c.41672G>C (TTN)	XP_024308868.1:p.Trp13891Ser