Canonical Allele Identifier: CA349470739

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1321907057
• gnomAD v2: 2-179411413-T-G
• gnomAD v4: 2-178546686-T-G
• MyVariant Identifiers: chr2:g.179411413T>G (hg19) ; chr2:g.178546686T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546686T>G , CM000664.2:g.178546686T>G	GRCh38
NC_000002.11:g.179411413T>G , CM000664.1:g.179411413T>G	GRCh37
NC_000002.10:g.179119659T>G	NCBI36
NG_011618.3:g.289117A>C , LRG_391:g.289117A>C
NG_051363.1:g.28860T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.87038A>C (TTN)	ENSP00000343764.6:p.Glu29013Ala
ENST00000342175.11:c.68123A>C (TTN)	ENSP00000340554.6:p.Glu22708Ala
ENST00000359218.10:c.67922A>C (TTN)	ENSP00000352154.5:p.Glu22641Ala
ENST00000342175.10:c.68123A>C (TTN)	ENSP00000340554.6:p.Glu22708Ala
ENST00000342992.10:c.87038A>C (TTN)	ENSP00000343764.6:p.Glu29013Ala
ENST00000359218.9:c.67922A>C (TTN)	ENSP00000352154.5:p.Glu22641Ala
ENST00000460472.6:c.67547A>C (TTN)	ENSP00000434586.1:p.Glu22516Ala
ENST00000589042.5:c.94742A>C (TTN) MANE Select	ENSP00000467141.1:p.Glu31581Ala
ENST00000591111.5:c.89819A>C (TTN)	ENSP00000465570.1:p.Glu29940Ala
ENST00000615779.4:c.89819A>C (TTN)	ENSP00000483597.1:p.Glu29940Ala
NM_001256850.1:c.89819A>C (TTN)	NP_001243779.1:p.Glu29940Ala
NM_001267550.2:c.94742A>C (TTN) MANE Select	NP_001254479.2:p.Glu31581Ala
NM_003319.4:c.67547A>C (TTN)	NP_003310.4:p.Glu22516Ala
NM_133378.4:c.87038A>C (TTN)	NP_596869.4:p.Glu29013Ala
NM_133432.3:c.67922A>C (TTN)	NP_597676.3:p.Glu22641Ala
NM_133437.4:c.68123A>C (TTN)	NP_597681.4:p.Glu22708Ala
NR_038271.1:n.446+23050T>G (TTN-AS1)
NR_038272.1:n.2043+4325T>G (TTN-AS1)
XM_011511729.1:c.93839A>C (TTN)	XP_011510031.1:p.Glu31280Ala
XM_011511730.1:c.67733A>C (TTN)	XP_011510032.1:p.Glu22578Ala
XM_011511731.1:c.67592A>C (TTN)	XP_011510033.1:p.Glu22531Ala
XM_017004819.1:c.93635A>C (TTN)	XP_016860308.1:p.Glu31212Ala
XM_017004820.1:c.89033A>C (TTN)	XP_016860309.1:p.Glu29678Ala
XM_017004821.1:c.89030A>C (TTN)	XP_016860310.1:p.Glu29677Ala
XM_017004822.1:c.86072A>C (TTN)	XP_016860311.1:p.Glu28691Ala
XM_017004823.1:c.67688A>C (TTN)	XP_016860312.1:p.Glu22563Ala
XM_024453094.1:c.89183A>C (TTN)	XP_024308862.1:p.Glu29728Ala
XM_024453095.1:c.89180A>C (TTN)	XP_024308863.1:p.Glu29727Ala
XM_024453096.1:c.88613A>C (TTN)	XP_024308864.1:p.Glu29538Ala
XM_024453097.1:c.85955A>C (TTN)	XP_024308865.1:p.Glu28652Ala
XM_024453098.1:c.85874A>C (TTN)	XP_024308866.1:p.Glu28625Ala
XM_024453099.1:c.67637A>C (TTN)	XP_024308867.1:p.Glu22546Ala
XM_024453100.1:c.57491A>C (TTN)	XP_024308868.1:p.Glu19164Ala