Canonical Allele Identifier: CA349511617

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs2154151354
• MyVariant Identifiers: chr2:g.179417281T>G (hg19) ; chr2:g.178552554T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552554T>G , CM000664.2:g.178552554T>G	GRCh38
NC_000002.11:g.179417281T>G , CM000664.1:g.179417281T>G	GRCh37
NC_000002.10:g.179125527T>G	NCBI36
NG_011618.3:g.283249A>C , LRG_391:g.283249A>C
NG_051363.1:g.34728T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.82642A>C (TTN)	ENSP00000343764.6:p.Thr27548Pro
ENST00000342175.11:c.63727A>C (TTN)	ENSP00000340554.6:p.Thr21243Pro
ENST00000359218.10:c.63526A>C (TTN)	ENSP00000352154.5:p.Thr21176Pro
ENST00000342175.10:c.63727A>C (TTN)	ENSP00000340554.6:p.Thr21243Pro
ENST00000342992.10:c.82642A>C (TTN)	ENSP00000343764.6:p.Thr27548Pro
ENST00000359218.9:c.63526A>C (TTN)	ENSP00000352154.5:p.Thr21176Pro
ENST00000460472.6:c.63151A>C (TTN)	ENSP00000434586.1:p.Thr21051Pro
ENST00000589042.5:c.90346A>C (TTN) MANE Select	ENSP00000467141.1:p.Thr30116Pro
ENST00000591111.5:c.85423A>C (TTN)	ENSP00000465570.1:p.Thr28475Pro
ENST00000615779.4:c.85423A>C (TTN)	ENSP00000483597.1:p.Thr28475Pro
NM_001256850.1:c.85423A>C (TTN)	NP_001243779.1:p.Thr28475Pro
NM_001267550.2:c.90346A>C (TTN) MANE Select	NP_001254479.2:p.Thr30116Pro
NM_003319.4:c.63151A>C (TTN)	NP_003310.4:p.Thr21051Pro
NM_133378.4:c.82642A>C (TTN)	NP_596869.4:p.Thr27548Pro
NM_133432.3:c.63526A>C (TTN)	NP_597676.3:p.Thr21176Pro
NM_133437.4:c.63727A>C (TTN)	NP_597681.4:p.Thr21243Pro
NR_038271.1:n.447-18746T>G (TTN-AS1)
NR_038272.1:n.2043+10193T>G (TTN-AS1)
XM_011511729.1:c.89443A>C (TTN)	XP_011510031.1:p.Thr29815Pro
XM_011511730.1:c.63337A>C (TTN)	XP_011510032.1:p.Thr21113Pro
XM_011511731.1:c.63196A>C (TTN)	XP_011510033.1:p.Thr21066Pro
XM_017004819.1:c.89239A>C (TTN)	XP_016860308.1:p.Thr29747Pro
XM_017004820.1:c.84637A>C (TTN)	XP_016860309.1:p.Thr28213Pro
XM_017004821.1:c.84634A>C (TTN)	XP_016860310.1:p.Thr28212Pro
XM_017004822.1:c.81676A>C (TTN)	XP_016860311.1:p.Thr27226Pro
XM_017004823.1:c.63292A>C (TTN)	XP_016860312.1:p.Thr21098Pro
XM_024453094.1:c.84787A>C (TTN)	XP_024308862.1:p.Thr28263Pro
XM_024453095.1:c.84784A>C (TTN)	XP_024308863.1:p.Thr28262Pro
XM_024453096.1:c.84217A>C (TTN)	XP_024308864.1:p.Thr28073Pro
XM_024453097.1:c.81559A>C (TTN)	XP_024308865.1:p.Thr27187Pro
XM_024453098.1:c.81478A>C (TTN)	XP_024308866.1:p.Thr27160Pro
XM_024453099.1:c.63241A>C (TTN)	XP_024308867.1:p.Thr21081Pro
XM_024453100.1:c.53095A>C (TTN)	XP_024308868.1:p.Thr17699Pro