Canonical Allele Identifier: CA1993541

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 467273
• ClinVar RCV Id: RCV000526393
• dbSNP Id: rs747601378
• ExAC: 2:179467071 T / C
• gnomAD v2: 2-179467071-T-C
• gnomAD v3: 2-178602344-T-C
• gnomAD v4: 2-178602344-T-C
• MyVariant Identifiers: chr2:g.179467071T>C (hg19) ; chr2:g.178602344T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178602344T>C , CM000664.2:g.178602344T>C	GRCh38
NC_000002.11:g.179467071T>C , CM000664.1:g.179467071T>C	GRCh37
NC_000002.10:g.179175316T>C	NCBI36
NG_011618.3:g.233459A>G , LRG_391:g.233459A>G
NG_051363.1:g.84518T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.47354A>G (TTN)	ENSP00000343764.6:p.Asn15785Ser
ENST00000342175.11:c.28439A>G (TTN)	ENSP00000340554.6:p.Asn9480Ser
ENST00000359218.10:c.28238A>G (TTN)	ENSP00000352154.5:p.Asn9413Ser
ENST00000342175.10:c.28439A>G (TTN)	ENSP00000340554.6:p.Asn9480Ser
ENST00000342992.10:c.47354A>G (TTN)	ENSP00000343764.6:p.Asn15785Ser
ENST00000359218.9:c.28238A>G (TTN)	ENSP00000352154.5:p.Asn9413Ser
ENST00000460472.6:c.27863A>G (TTN)	ENSP00000434586.1:p.Asn9288Ser
ENST00000589042.5:c.55058A>G (TTN) MANE Select	ENSP00000467141.1:p.Asn18353Ser
ENST00000591111.5:c.50135A>G (TTN)	ENSP00000465570.1:p.Asn16712Ser
ENST00000615779.4:c.50135A>G (TTN)	ENSP00000483597.1:p.Asn16712Ser
NM_001256850.1:c.50135A>G (TTN)	NP_001243779.1:p.Asn16712Ser
NM_001267550.2:c.55058A>G (TTN) MANE Select	NP_001254479.2:p.Asn18353Ser
NM_003319.4:c.27863A>G (TTN)	NP_003310.4:p.Asn9288Ser
NM_133378.4:c.47354A>G (TTN)	NP_596869.4:p.Asn15785Ser
NM_133432.3:c.28238A>G (TTN)	NP_597676.3:p.Asn9413Ser
NM_133437.4:c.28439A>G (TTN)	NP_597681.4:p.Asn9480Ser
NR_038271.1:n.682+4663T>C (TTN-AS1)
NR_038272.1:n.3917+1677T>C (TTN-AS1)
XM_011511729.1:c.54155A>G (TTN)	XP_011510031.1:p.Asn18052Ser
XM_011511730.1:c.28049A>G (TTN)	XP_011510032.1:p.Asn9350Ser
XM_011511731.1:c.27908A>G (TTN)	XP_011510033.1:p.Asn9303Ser
XM_017004819.1:c.53951A>G (TTN)	XP_016860308.1:p.Asn17984Ser
XM_017004820.1:c.49349A>G (TTN)	XP_016860309.1:p.Asn16450Ser
XM_017004821.1:c.49346A>G (TTN)	XP_016860310.1:p.Asn16449Ser
XM_017004822.1:c.46388A>G (TTN)	XP_016860311.1:p.Asn15463Ser
XM_017004823.1:c.28004A>G (TTN)	XP_016860312.1:p.Asn9335Ser
XM_024453094.1:c.49499A>G (TTN)	XP_024308862.1:p.Asn16500Ser
XM_024453095.1:c.49496A>G (TTN)	XP_024308863.1:p.Asn16499Ser
XM_024453096.1:c.48929A>G (TTN)	XP_024308864.1:p.Asn16310Ser
XM_024453097.1:c.46271A>G (TTN)	XP_024308865.1:p.Asn15424Ser
XM_024453098.1:c.46190A>G (TTN)	XP_024308866.1:p.Asn15397Ser
XM_024453099.1:c.27953A>G (TTN)	XP_024308867.1:p.Asn9318Ser
XM_024453100.1:c.17807A>G (TTN)	XP_024308868.1:p.Asn5936Ser