Canonical Allele Identifier: CA349411823

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1411362528
• gnomAD v2: 2-179396946-G-C
• gnomAD v4: 2-178532219-G-C
• MyVariant Identifiers: chr2:g.179396946G>C (hg19) ; chr2:g.178532219G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532219G>C , CM000664.2:g.178532219G>C	GRCh38
NC_000002.11:g.179396946G>C , CM000664.1:g.179396946G>C	GRCh37
NC_000002.10:g.179105192G>C	NCBI36
NG_011618.3:g.303584C>G , LRG_391:g.303584C>G
NG_051363.1:g.14393G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96692C>G (TTN)	ENSP00000343764.6:p.Ser32231Cys
ENST00000342175.11:c.77777C>G (TTN)	ENSP00000340554.6:p.Ser25926Cys
ENST00000359218.10:c.77576C>G (TTN)	ENSP00000352154.5:p.Ser25859Cys
ENST00000342175.10:c.77777C>G (TTN)	ENSP00000340554.6:p.Ser25926Cys
ENST00000342992.10:c.96692C>G (TTN)	ENSP00000343764.6:p.Ser32231Cys
ENST00000359218.9:c.77576C>G (TTN)	ENSP00000352154.5:p.Ser25859Cys
ENST00000460472.6:c.77201C>G (TTN)	ENSP00000434586.1:p.Ser25734Cys
ENST00000589042.5:c.104396C>G (TTN) MANE Select	ENSP00000467141.1:p.Ser34799Cys
ENST00000591111.5:c.99473C>G (TTN)	ENSP00000465570.1:p.Ser33158Cys
ENST00000615779.4:c.99473C>G (TTN)	ENSP00000483597.1:p.Ser33158Cys
NM_001256850.1:c.99473C>G (TTN)	NP_001243779.1:p.Ser33158Cys
NM_001267550.2:c.104396C>G (TTN) MANE Select	NP_001254479.2:p.Ser34799Cys
NM_003319.4:c.77201C>G (TTN)	NP_003310.4:p.Ser25734Cys
NM_133378.4:c.96692C>G (TTN)	NP_596869.4:p.Ser32231Cys
NM_133432.3:c.77576C>G (TTN)	NP_597676.3:p.Ser25859Cys
NM_133437.4:c.77777C>G (TTN)	NP_597681.4:p.Ser25926Cys
NR_038271.1:n.446+8583G>C (TTN-AS1)
NR_038272.1:n.220-3513G>C (TTN-AS1)
XM_011511729.1:c.103493C>G (TTN)	XP_011510031.1:p.Ser34498Cys
XM_011511730.1:c.77387C>G (TTN)	XP_011510032.1:p.Ser25796Cys
XM_011511731.1:c.77246C>G (TTN)	XP_011510033.1:p.Ser25749Cys
XM_017004819.1:c.103289C>G (TTN)	XP_016860308.1:p.Ser34430Cys
XM_017004820.1:c.98687C>G (TTN)	XP_016860309.1:p.Ser32896Cys
XM_017004821.1:c.98684C>G (TTN)	XP_016860310.1:p.Ser32895Cys
XM_017004822.1:c.95726C>G (TTN)	XP_016860311.1:p.Ser31909Cys
XM_017004823.1:c.77342C>G (TTN)	XP_016860312.1:p.Ser25781Cys
XM_024453094.1:c.98837C>G (TTN)	XP_024308862.1:p.Ser32946Cys
XM_024453095.1:c.98834C>G (TTN)	XP_024308863.1:p.Ser32945Cys
XM_024453096.1:c.98267C>G (TTN)	XP_024308864.1:p.Ser32756Cys
XM_024453097.1:c.95609C>G (TTN)	XP_024308865.1:p.Ser31870Cys
XM_024453098.1:c.95528C>G (TTN)	XP_024308866.1:p.Ser31843Cys
XM_024453099.1:c.77291C>G (TTN)	XP_024308867.1:p.Ser25764Cys
XM_024453100.1:c.67145C>G (TTN)	XP_024308868.1:p.Ser22382Cys