Canonical Allele Identifier: CA1992748

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs767889522
• ExAC: 2:179457962 T / C
• gnomAD v2: 2-179457962-T-C
• gnomAD v3: 2-178593235-T-C
• gnomAD v4: 2-178593235-T-C
• MyVariant Identifiers: chr2:g.179457962T>C (hg19) ; chr2:g.178593235T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593235T>C , CM000664.2:g.178593235T>C	GRCh38
NC_000002.11:g.179457962T>C , CM000664.1:g.179457962T>C	GRCh37
NC_000002.10:g.179166208T>C	NCBI36
NG_011618.3:g.242568A>G , LRG_391:g.242568A>G
NG_051363.1:g.75409T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.51269A>G (TTN)	ENSP00000343764.6:p.Asn17090Ser
ENST00000342175.11:c.32354A>G (TTN)	ENSP00000340554.6:p.Asn10785Ser
ENST00000359218.10:c.32153A>G (TTN)	ENSP00000352154.5:p.Asn10718Ser
ENST00000342175.10:c.32354A>G (TTN)	ENSP00000340554.6:p.Asn10785Ser
ENST00000342992.10:c.51269A>G (TTN)	ENSP00000343764.6:p.Asn17090Ser
ENST00000359218.9:c.32153A>G (TTN)	ENSP00000352154.5:p.Asn10718Ser
ENST00000460472.6:c.31778A>G (TTN)	ENSP00000434586.1:p.Asn10593Ser
ENST00000589042.5:c.58973A>G (TTN) MANE Select	ENSP00000467141.1:p.Asn19658Ser
ENST00000591111.5:c.54050A>G (TTN)	ENSP00000465570.1:p.Asn18017Ser
ENST00000615779.4:c.54050A>G (TTN)	ENSP00000483597.1:p.Asn18017Ser
NM_001256850.1:c.54050A>G (TTN)	NP_001243779.1:p.Asn18017Ser
NM_001267550.2:c.58973A>G (TTN) MANE Select	NP_001254479.2:p.Asn19658Ser
NM_003319.4:c.31778A>G (TTN)	NP_003310.4:p.Asn10593Ser
NM_133378.4:c.51269A>G (TTN)	NP_596869.4:p.Asn17090Ser
NM_133432.3:c.32153A>G (TTN)	NP_597676.3:p.Asn10718Ser
NM_133437.4:c.32354A>G (TTN)	NP_597681.4:p.Asn10785Ser
NR_038271.1:n.597-4361T>C (TTN-AS1)
NR_038272.1:n.3364+1921T>C (TTN-AS1)
XM_011511729.1:c.58070A>G (TTN)	XP_011510031.1:p.Asn19357Ser
XM_011511730.1:c.31964A>G (TTN)	XP_011510032.1:p.Asn10655Ser
XM_011511731.1:c.31823A>G (TTN)	XP_011510033.1:p.Asn10608Ser
XM_017004819.1:c.57866A>G (TTN)	XP_016860308.1:p.Asn19289Ser
XM_017004820.1:c.53264A>G (TTN)	XP_016860309.1:p.Asn17755Ser
XM_017004821.1:c.53261A>G (TTN)	XP_016860310.1:p.Asn17754Ser
XM_017004822.1:c.50303A>G (TTN)	XP_016860311.1:p.Asn16768Ser
XM_017004823.1:c.31919A>G (TTN)	XP_016860312.1:p.Asn10640Ser
XM_024453094.1:c.53414A>G (TTN)	XP_024308862.1:p.Asn17805Ser
XM_024453095.1:c.53411A>G (TTN)	XP_024308863.1:p.Asn17804Ser
XM_024453096.1:c.52844A>G (TTN)	XP_024308864.1:p.Asn17615Ser
XM_024453097.1:c.50186A>G (TTN)	XP_024308865.1:p.Asn16729Ser
XM_024453098.1:c.50105A>G (TTN)	XP_024308866.1:p.Asn16702Ser
XM_024453099.1:c.31868A>G (TTN)	XP_024308867.1:p.Asn10623Ser
XM_024453100.1:c.21722A>G (TTN)	XP_024308868.1:p.Asn7241Ser