Canonical Allele Identifier: CA349502677

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178551655-T-G
• MyVariant Identifiers: chr2:g.179416382T>G (hg19) ; chr2:g.178551655T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551655T>G , CM000664.2:g.178551655T>G	GRCh38
NC_000002.11:g.179416382T>G , CM000664.1:g.179416382T>G	GRCh37
NC_000002.10:g.179124628T>G	NCBI36
NG_011618.3:g.284148A>C , LRG_391:g.284148A>C
NG_051363.1:g.33829T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.83541A>C (TTN)	ENSP00000343764.6:p.Lys27847Asn
ENST00000342175.11:c.64626A>C (TTN)	ENSP00000340554.6:p.Lys21542Asn
ENST00000359218.10:c.64425A>C (TTN)	ENSP00000352154.5:p.Lys21475Asn
ENST00000342175.10:c.64626A>C (TTN)	ENSP00000340554.6:p.Lys21542Asn
ENST00000342992.10:c.83541A>C (TTN)	ENSP00000343764.6:p.Lys27847Asn
ENST00000359218.9:c.64425A>C (TTN)	ENSP00000352154.5:p.Lys21475Asn
ENST00000460472.6:c.64050A>C (TTN)	ENSP00000434586.1:p.Lys21350Asn
ENST00000589042.5:c.91245A>C (TTN) MANE Select	ENSP00000467141.1:p.Lys30415Asn
ENST00000591111.5:c.86322A>C (TTN)	ENSP00000465570.1:p.Lys28774Asn
ENST00000615779.4:c.86322A>C (TTN)	ENSP00000483597.1:p.Lys28774Asn
NM_001256850.1:c.86322A>C (TTN)	NP_001243779.1:p.Lys28774Asn
NM_001267550.2:c.91245A>C (TTN) MANE Select	NP_001254479.2:p.Lys30415Asn
NM_003319.4:c.64050A>C (TTN)	NP_003310.4:p.Lys21350Asn
NM_133378.4:c.83541A>C (TTN)	NP_596869.4:p.Lys27847Asn
NM_133432.3:c.64425A>C (TTN)	NP_597676.3:p.Lys21475Asn
NM_133437.4:c.64626A>C (TTN)	NP_597681.4:p.Lys21542Asn
NR_038271.1:n.447-19645T>G (TTN-AS1)
NR_038272.1:n.2043+9294T>G (TTN-AS1)
XM_011511729.1:c.90342A>C (TTN)	XP_011510031.1:p.Lys30114Asn
XM_011511730.1:c.64236A>C (TTN)	XP_011510032.1:p.Lys21412Asn
XM_011511731.1:c.64095A>C (TTN)	XP_011510033.1:p.Lys21365Asn
XM_017004819.1:c.90138A>C (TTN)	XP_016860308.1:p.Lys30046Asn
XM_017004820.1:c.85536A>C (TTN)	XP_016860309.1:p.Lys28512Asn
XM_017004821.1:c.85533A>C (TTN)	XP_016860310.1:p.Lys28511Asn
XM_017004822.1:c.82575A>C (TTN)	XP_016860311.1:p.Lys27525Asn
XM_017004823.1:c.64191A>C (TTN)	XP_016860312.1:p.Lys21397Asn
XM_024453094.1:c.85686A>C (TTN)	XP_024308862.1:p.Lys28562Asn
XM_024453095.1:c.85683A>C (TTN)	XP_024308863.1:p.Lys28561Asn
XM_024453096.1:c.85116A>C (TTN)	XP_024308864.1:p.Lys28372Asn
XM_024453097.1:c.82458A>C (TTN)	XP_024308865.1:p.Lys27486Asn
XM_024453098.1:c.82377A>C (TTN)	XP_024308866.1:p.Lys27459Asn
XM_024453099.1:c.64140A>C (TTN)	XP_024308867.1:p.Lys21380Asn
XM_024453100.1:c.53994A>C (TTN)	XP_024308868.1:p.Lys17998Asn