Canonical Allele Identifier: CA349471499

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179411488C>G (hg19) ; chr2:g.178546761C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546761C>G , CM000664.2:g.178546761C>G	GRCh38
NC_000002.11:g.179411488C>G , CM000664.1:g.179411488C>G	GRCh37
NC_000002.10:g.179119734C>G	NCBI36
NG_011618.3:g.289042G>C , LRG_391:g.289042G>C
NG_051363.1:g.28935C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86963G>C (TTN)	ENSP00000343764.6:p.Trp28988Ser
ENST00000342175.11:c.68048G>C (TTN)	ENSP00000340554.6:p.Trp22683Ser
ENST00000359218.10:c.67847G>C (TTN)	ENSP00000352154.5:p.Trp22616Ser
ENST00000342175.10:c.68048G>C (TTN)	ENSP00000340554.6:p.Trp22683Ser
ENST00000342992.10:c.86963G>C (TTN)	ENSP00000343764.6:p.Trp28988Ser
ENST00000359218.9:c.67847G>C (TTN)	ENSP00000352154.5:p.Trp22616Ser
ENST00000460472.6:c.67472G>C (TTN)	ENSP00000434586.1:p.Trp22491Ser
ENST00000589042.5:c.94667G>C (TTN) MANE Select	ENSP00000467141.1:p.Trp31556Ser
ENST00000591111.5:c.89744G>C (TTN)	ENSP00000465570.1:p.Trp29915Ser
ENST00000615779.4:c.89744G>C (TTN)	ENSP00000483597.1:p.Trp29915Ser
NM_001256850.1:c.89744G>C (TTN)	NP_001243779.1:p.Trp29915Ser
NM_001267550.2:c.94667G>C (TTN) MANE Select	NP_001254479.2:p.Trp31556Ser
NM_003319.4:c.67472G>C (TTN)	NP_003310.4:p.Trp22491Ser
NM_133378.4:c.86963G>C (TTN)	NP_596869.4:p.Trp28988Ser
NM_133432.3:c.67847G>C (TTN)	NP_597676.3:p.Trp22616Ser
NM_133437.4:c.68048G>C (TTN)	NP_597681.4:p.Trp22683Ser
NR_038271.1:n.446+23125C>G (TTN-AS1)
NR_038272.1:n.2043+4400C>G (TTN-AS1)
XM_011511729.1:c.93764G>C (TTN)	XP_011510031.1:p.Trp31255Ser
XM_011511730.1:c.67658G>C (TTN)	XP_011510032.1:p.Trp22553Ser
XM_011511731.1:c.67517G>C (TTN)	XP_011510033.1:p.Trp22506Ser
XM_017004819.1:c.93560G>C (TTN)	XP_016860308.1:p.Trp31187Ser
XM_017004820.1:c.88958G>C (TTN)	XP_016860309.1:p.Trp29653Ser
XM_017004821.1:c.88955G>C (TTN)	XP_016860310.1:p.Trp29652Ser
XM_017004822.1:c.85997G>C (TTN)	XP_016860311.1:p.Trp28666Ser
XM_017004823.1:c.67613G>C (TTN)	XP_016860312.1:p.Trp22538Ser
XM_024453094.1:c.89108G>C (TTN)	XP_024308862.1:p.Trp29703Ser
XM_024453095.1:c.89105G>C (TTN)	XP_024308863.1:p.Trp29702Ser
XM_024453096.1:c.88538G>C (TTN)	XP_024308864.1:p.Trp29513Ser
XM_024453097.1:c.85880G>C (TTN)	XP_024308865.1:p.Trp28627Ser
XM_024453098.1:c.85799G>C (TTN)	XP_024308866.1:p.Trp28600Ser
XM_024453099.1:c.67562G>C (TTN)	XP_024308867.1:p.Trp22521Ser
XM_024453100.1:c.57416G>C (TTN)	XP_024308868.1:p.Trp19139Ser