Canonical Allele Identifier: CA349645206

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179494986C>A (hg19) ; chr2:g.178630259C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630259C>A , CM000664.2:g.178630259C>A	GRCh38
NC_000002.11:g.179494986C>A , CM000664.1:g.179494986C>A	GRCh37
NC_000002.10:g.179203231C>A	NCBI36
NG_011618.3:g.205544G>T , LRG_391:g.205544G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.36559G>T	ENSP00000343764.6:p.Ala12187Ser
ENST00000342175.11:c.17644G>T	ENSP00000340554.6:p.Ala5882Ser
ENST00000359218.10:c.17443G>T	ENSP00000352154.5:p.Ala5815Ser
ENST00000342175.10:c.17644G>T	ENSP00000340554.6:p.Ala5882Ser
ENST00000342992.10:c.36559G>T	ENSP00000343764.6:p.Ala12187Ser
ENST00000359218.9:c.17443G>T	ENSP00000352154.5:p.Ala5815Ser
ENST00000460472.6:c.17068G>T	ENSP00000434586.1:p.Ala5690Ser
ENST00000589042.5:c.44263G>T MANE Select	ENSP00000467141.1:p.Ala14755Ser
ENST00000591111.5:c.39340G>T	ENSP00000465570.1:p.Ala13114Ser
ENST00000615779.4:c.39340G>T	ENSP00000483597.1:p.Ala13114Ser
NM_001256850.1:c.39340G>T	NP_001243779.1:p.Ala13114Ser
NM_001267550.2:c.44263G>T MANE Select	NP_001254479.2:p.Ala14755Ser
NM_003319.4:c.17068G>T	NP_003310.4:p.Ala5690Ser
NM_133378.4:c.36559G>T	NP_596869.4:p.Ala12187Ser
NM_133432.3:c.17443G>T	NP_597676.3:p.Ala5815Ser
NM_133437.4:c.17644G>T	NP_597681.4:p.Ala5882Ser
XM_011511729.1:c.43360G>T	XP_011510031.1:p.Ala14454Ser
XM_011511730.1:c.17254G>T	XP_011510032.1:p.Ala5752Ser
XM_011511731.1:c.17113G>T	XP_011510033.1:p.Ala5705Ser
XM_017004819.1:c.43156G>T	XP_016860308.1:p.Ala14386Ser
XM_017004820.1:c.38554G>T	XP_016860309.1:p.Ala12852Ser
XM_017004821.1:c.38551G>T	XP_016860310.1:p.Ala12851Ser
XM_017004822.1:c.35593G>T	XP_016860311.1:p.Ala11865Ser
XM_017004823.1:c.17209G>T	XP_016860312.1:p.Ala5737Ser
XM_024453094.1:c.38704G>T	XP_024308862.1:p.Ala12902Ser
XM_024453095.1:c.38701G>T	XP_024308863.1:p.Ala12901Ser
XM_024453096.1:c.38134G>T	XP_024308864.1:p.Ala12712Ser
XM_024453097.1:c.35476G>T	XP_024308865.1:p.Ala11826Ser
XM_024453098.1:c.35395G>T	XP_024308866.1:p.Ala11799Ser
XM_024453099.1:c.17158G>T	XP_024308867.1:p.Ala5720Ser
XM_024453100.1:c.7012G>T	XP_024308868.1:p.Ala2338Ser