Canonical Allele Identifier: CA349411921

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178532259-A-G
• MyVariant Identifiers: chr2:g.179396986A>G (hg19) ; chr2:g.178532259A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532259A>G , CM000664.2:g.178532259A>G	GRCh38
NC_000002.11:g.179396986A>G , CM000664.1:g.179396986A>G	GRCh37
NC_000002.10:g.179105232A>G	NCBI36
NG_011618.3:g.303544T>C , LRG_391:g.303544T>C
NG_051363.1:g.14433A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96652T>C (TTN)	ENSP00000343764.6:p.Tyr32218His
ENST00000342175.11:c.77737T>C (TTN)	ENSP00000340554.6:p.Tyr25913His
ENST00000359218.10:c.77536T>C (TTN)	ENSP00000352154.5:p.Tyr25846His
ENST00000342175.10:c.77737T>C (TTN)	ENSP00000340554.6:p.Tyr25913His
ENST00000342992.10:c.96652T>C (TTN)	ENSP00000343764.6:p.Tyr32218His
ENST00000359218.9:c.77536T>C (TTN)	ENSP00000352154.5:p.Tyr25846His
ENST00000460472.6:c.77161T>C (TTN)	ENSP00000434586.1:p.Tyr25721His
ENST00000589042.5:c.104356T>C (TTN) MANE Select	ENSP00000467141.1:p.Tyr34786His
ENST00000591111.5:c.99433T>C (TTN)	ENSP00000465570.1:p.Tyr33145His
ENST00000615779.4:c.99433T>C (TTN)	ENSP00000483597.1:p.Tyr33145His
NM_001256850.1:c.99433T>C (TTN)	NP_001243779.1:p.Tyr33145His
NM_001267550.2:c.104356T>C (TTN) MANE Select	NP_001254479.2:p.Tyr34786His
NM_003319.4:c.77161T>C (TTN)	NP_003310.4:p.Tyr25721His
NM_133378.4:c.96652T>C (TTN)	NP_596869.4:p.Tyr32218His
NM_133432.3:c.77536T>C (TTN)	NP_597676.3:p.Tyr25846His
NM_133437.4:c.77737T>C (TTN)	NP_597681.4:p.Tyr25913His
NR_038271.1:n.446+8623A>G (TTN-AS1)
NR_038272.1:n.220-3473A>G (TTN-AS1)
XM_011511729.1:c.103453T>C (TTN)	XP_011510031.1:p.Tyr34485His
XM_011511730.1:c.77347T>C (TTN)	XP_011510032.1:p.Tyr25783His
XM_011511731.1:c.77206T>C (TTN)	XP_011510033.1:p.Tyr25736His
XM_017004819.1:c.103249T>C (TTN)	XP_016860308.1:p.Tyr34417His
XM_017004820.1:c.98647T>C (TTN)	XP_016860309.1:p.Tyr32883His
XM_017004821.1:c.98644T>C (TTN)	XP_016860310.1:p.Tyr32882His
XM_017004822.1:c.95686T>C (TTN)	XP_016860311.1:p.Tyr31896His
XM_017004823.1:c.77302T>C (TTN)	XP_016860312.1:p.Tyr25768His
XM_024453094.1:c.98797T>C (TTN)	XP_024308862.1:p.Tyr32933His
XM_024453095.1:c.98794T>C (TTN)	XP_024308863.1:p.Tyr32932His
XM_024453096.1:c.98227T>C (TTN)	XP_024308864.1:p.Tyr32743His
XM_024453097.1:c.95569T>C (TTN)	XP_024308865.1:p.Tyr31857His
XM_024453098.1:c.95488T>C (TTN)	XP_024308866.1:p.Tyr31830His
XM_024453099.1:c.77251T>C (TTN)	XP_024308867.1:p.Tyr25751His
XM_024453100.1:c.67105T>C (TTN)	XP_024308868.1:p.Tyr22369His