Canonical Allele Identifier: CA349489138

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs2154147602
• gnomAD v3: 2-178548666-T-C
• gnomAD v4: 2-178548666-T-C
• MyVariant Identifiers: chr2:g.179413393T>C (hg19) ; chr2:g.178548666T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178548666T>C , CM000664.2:g.178548666T>C	GRCh38
NC_000002.11:g.179413393T>C , CM000664.1:g.179413393T>C	GRCh37
NC_000002.10:g.179121639T>C	NCBI36
NG_011618.3:g.287137A>G , LRG_391:g.287137A>G
NG_051363.1:g.30840T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.85256A>G (TTN)	ENSP00000343764.6:p.Asn28419Ser
ENST00000342175.11:c.66341A>G (TTN)	ENSP00000340554.6:p.Asn22114Ser
ENST00000359218.10:c.66140A>G (TTN)	ENSP00000352154.5:p.Asn22047Ser
ENST00000342175.10:c.66341A>G (TTN)	ENSP00000340554.6:p.Asn22114Ser
ENST00000342992.10:c.85256A>G (TTN)	ENSP00000343764.6:p.Asn28419Ser
ENST00000359218.9:c.66140A>G (TTN)	ENSP00000352154.5:p.Asn22047Ser
ENST00000460472.6:c.65765A>G (TTN)	ENSP00000434586.1:p.Asn21922Ser
ENST00000589042.5:c.92960A>G (TTN) MANE Select	ENSP00000467141.1:p.Asn30987Ser
ENST00000591111.5:c.88037A>G (TTN)	ENSP00000465570.1:p.Asn29346Ser
ENST00000615779.4:c.88037A>G (TTN)	ENSP00000483597.1:p.Asn29346Ser
NM_001256850.1:c.88037A>G (TTN)	NP_001243779.1:p.Asn29346Ser
NM_001267550.2:c.92960A>G (TTN) MANE Select	NP_001254479.2:p.Asn30987Ser
NM_003319.4:c.65765A>G (TTN)	NP_003310.4:p.Asn21922Ser
NM_133378.4:c.85256A>G (TTN)	NP_596869.4:p.Asn28419Ser
NM_133432.3:c.66140A>G (TTN)	NP_597676.3:p.Asn22047Ser
NM_133437.4:c.66341A>G (TTN)	NP_597681.4:p.Asn22114Ser
NR_038271.1:n.447-22634T>C (TTN-AS1)
NR_038272.1:n.2043+6305T>C (TTN-AS1)
XM_011511729.1:c.92057A>G (TTN)	XP_011510031.1:p.Asn30686Ser
XM_011511730.1:c.65951A>G (TTN)	XP_011510032.1:p.Asn21984Ser
XM_011511731.1:c.65810A>G (TTN)	XP_011510033.1:p.Asn21937Ser
XM_017004819.1:c.91853A>G (TTN)	XP_016860308.1:p.Asn30618Ser
XM_017004820.1:c.87251A>G (TTN)	XP_016860309.1:p.Asn29084Ser
XM_017004821.1:c.87248A>G (TTN)	XP_016860310.1:p.Asn29083Ser
XM_017004822.1:c.84290A>G (TTN)	XP_016860311.1:p.Asn28097Ser
XM_017004823.1:c.65906A>G (TTN)	XP_016860312.1:p.Asn21969Ser
XM_024453094.1:c.87401A>G (TTN)	XP_024308862.1:p.Asn29134Ser
XM_024453095.1:c.87398A>G (TTN)	XP_024308863.1:p.Asn29133Ser
XM_024453096.1:c.86831A>G (TTN)	XP_024308864.1:p.Asn28944Ser
XM_024453097.1:c.84173A>G (TTN)	XP_024308865.1:p.Asn28058Ser
XM_024453098.1:c.84092A>G (TTN)	XP_024308866.1:p.Asn28031Ser
XM_024453099.1:c.65855A>G (TTN)	XP_024308867.1:p.Asn21952Ser
XM_024453100.1:c.55709A>G (TTN)	XP_024308868.1:p.Asn18570Ser