Canonical Allele Identifier: CA349470790

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178546688-A-C
• MyVariant Identifiers: chr2:g.179411415A>C (hg19) ; chr2:g.178546688A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546688A>C , CM000664.2:g.178546688A>C	GRCh38
NC_000002.11:g.179411415A>C , CM000664.1:g.179411415A>C	GRCh37
NC_000002.10:g.179119661A>C	NCBI36
NG_011618.3:g.289115T>G , LRG_391:g.289115T>G
NG_051363.1:g.28862A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.87036T>G (TTN)	ENSP00000343764.6:p.Tyr29012Ter
ENST00000342175.11:c.68121T>G (TTN)	ENSP00000340554.6:p.Tyr22707Ter
ENST00000359218.10:c.67920T>G (TTN)	ENSP00000352154.5:p.Tyr22640Ter
ENST00000342175.10:c.68121T>G (TTN)	ENSP00000340554.6:p.Tyr22707Ter
ENST00000342992.10:c.87036T>G (TTN)	ENSP00000343764.6:p.Tyr29012Ter
ENST00000359218.9:c.67920T>G (TTN)	ENSP00000352154.5:p.Tyr22640Ter
ENST00000460472.6:c.67545T>G (TTN)	ENSP00000434586.1:p.Tyr22515Ter
ENST00000589042.5:c.94740T>G (TTN) MANE Select	ENSP00000467141.1:p.Tyr31580Ter
ENST00000591111.5:c.89817T>G (TTN)	ENSP00000465570.1:p.Tyr29939Ter
ENST00000615779.4:c.89817T>G (TTN)	ENSP00000483597.1:p.Tyr29939Ter
NM_001256850.1:c.89817T>G (TTN)	NP_001243779.1:p.Tyr29939Ter
NM_001267550.2:c.94740T>G (TTN) MANE Select	NP_001254479.2:p.Tyr31580Ter
NM_003319.4:c.67545T>G (TTN)	NP_003310.4:p.Tyr22515Ter
NM_133378.4:c.87036T>G (TTN)	NP_596869.4:p.Tyr29012Ter
NM_133432.3:c.67920T>G (TTN)	NP_597676.3:p.Tyr22640Ter
NM_133437.4:c.68121T>G (TTN)	NP_597681.4:p.Tyr22707Ter
NR_038271.1:n.446+23052A>C (TTN-AS1)
NR_038272.1:n.2043+4327A>C (TTN-AS1)
XM_011511729.1:c.93837T>G (TTN)	XP_011510031.1:p.Tyr31279Ter
XM_011511730.1:c.67731T>G (TTN)	XP_011510032.1:p.Tyr22577Ter
XM_011511731.1:c.67590T>G (TTN)	XP_011510033.1:p.Tyr22530Ter
XM_017004819.1:c.93633T>G (TTN)	XP_016860308.1:p.Tyr31211Ter
XM_017004820.1:c.89031T>G (TTN)	XP_016860309.1:p.Tyr29677Ter
XM_017004821.1:c.89028T>G (TTN)	XP_016860310.1:p.Tyr29676Ter
XM_017004822.1:c.86070T>G (TTN)	XP_016860311.1:p.Tyr28690Ter
XM_017004823.1:c.67686T>G (TTN)	XP_016860312.1:p.Tyr22562Ter
XM_024453094.1:c.89181T>G (TTN)	XP_024308862.1:p.Tyr29727Ter
XM_024453095.1:c.89178T>G (TTN)	XP_024308863.1:p.Tyr29726Ter
XM_024453096.1:c.88611T>G (TTN)	XP_024308864.1:p.Tyr29537Ter
XM_024453097.1:c.85953T>G (TTN)	XP_024308865.1:p.Tyr28651Ter
XM_024453098.1:c.85872T>G (TTN)	XP_024308866.1:p.Tyr28624Ter
XM_024453099.1:c.67635T>G (TTN)	XP_024308867.1:p.Tyr22545Ter
XM_024453100.1:c.57489T>G (TTN)	XP_024308868.1:p.Tyr19163Ter