Canonical Allele Identifier: CA1995068

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs773613340
• ExAC: 2:179482781 G / T
• gnomAD v2: 2-179482781-G-T
• gnomAD v4: 2-178618054-G-T
• MyVariant Identifiers: chr2:g.179482781G>T (hg19) ; chr2:g.178618054G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618054G>T , CM000664.2:g.178618054G>T	GRCh38
NC_000002.11:g.179482781G>T , CM000664.1:g.179482781G>T	GRCh37
NC_000002.10:g.179191026G>T	NCBI36
NG_011618.3:g.217749C>A , LRG_391:g.217749C>A
NG_051363.1:g.100228G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39593C>A (TTN)	ENSP00000343764.6:p.Thr13198Asn
ENST00000342175.11:c.20678C>A (TTN)	ENSP00000340554.6:p.Thr6893Asn
ENST00000359218.10:c.20477C>A (TTN)	ENSP00000352154.5:p.Thr6826Asn
ENST00000342175.10:c.20678C>A (TTN)	ENSP00000340554.6:p.Thr6893Asn
ENST00000342992.10:c.39593C>A (TTN)	ENSP00000343764.6:p.Thr13198Asn
ENST00000359218.9:c.20477C>A (TTN)	ENSP00000352154.5:p.Thr6826Asn
ENST00000460472.6:c.20102C>A (TTN)	ENSP00000434586.1:p.Thr6701Asn
ENST00000589042.5:c.47297C>A (TTN) MANE Select	ENSP00000467141.1:p.Thr15766Asn
ENST00000591111.5:c.42374C>A (TTN)	ENSP00000465570.1:p.Thr14125Asn
ENST00000615779.4:c.42374C>A (TTN)	ENSP00000483597.1:p.Thr14125Asn
NM_001256850.1:c.42374C>A (TTN)	NP_001243779.1:p.Thr14125Asn
NM_001267550.2:c.47297C>A (TTN) MANE Select	NP_001254479.2:p.Thr15766Asn
NM_003319.4:c.20102C>A (TTN)	NP_003310.4:p.Thr6701Asn
NM_133378.4:c.39593C>A (TTN)	NP_596869.4:p.Thr13198Asn
NM_133432.3:c.20477C>A (TTN)	NP_597676.3:p.Thr6826Asn
NM_133437.4:c.20678C>A (TTN)	NP_597681.4:p.Thr6893Asn
NR_038271.1:n.1605-1699G>T (TTN-AS1)
XM_011511729.1:c.46394C>A (TTN)	XP_011510031.1:p.Thr15465Asn
XM_011511730.1:c.20288C>A (TTN)	XP_011510032.1:p.Thr6763Asn
XM_011511731.1:c.20147C>A (TTN)	XP_011510033.1:p.Thr6716Asn
XM_017004819.1:c.46190C>A (TTN)	XP_016860308.1:p.Thr15397Asn
XM_017004820.1:c.41588C>A (TTN)	XP_016860309.1:p.Thr13863Asn
XM_017004821.1:c.41585C>A (TTN)	XP_016860310.1:p.Thr13862Asn
XM_017004822.1:c.38627C>A (TTN)	XP_016860311.1:p.Thr12876Asn
XM_017004823.1:c.20243C>A (TTN)	XP_016860312.1:p.Thr6748Asn
XM_024453094.1:c.41738C>A (TTN)	XP_024308862.1:p.Thr13913Asn
XM_024453095.1:c.41735C>A (TTN)	XP_024308863.1:p.Thr13912Asn
XM_024453096.1:c.41168C>A (TTN)	XP_024308864.1:p.Thr13723Asn
XM_024453097.1:c.38510C>A (TTN)	XP_024308865.1:p.Thr12837Asn
XM_024453098.1:c.38429C>A (TTN)	XP_024308866.1:p.Thr12810Asn
XM_024453099.1:c.20192C>A (TTN)	XP_024308867.1:p.Thr6731Asn
XM_024453100.1:c.10046C>A (TTN)	XP_024308868.1:p.Thr3349Asn