Canonical Allele Identifier: CA349427925

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1422722775
• gnomAD v2: 2-179402360-C-G
• gnomAD v4: 2-178537633-C-G
• MyVariant Identifiers: chr2:g.179402360C>G (hg19) ; chr2:g.178537633C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537633C>G , CM000664.2:g.178537633C>G	GRCh38
NC_000002.11:g.179402360C>G , CM000664.1:g.179402360C>G	GRCh37
NC_000002.10:g.179110606C>G	NCBI36
NG_011618.3:g.298170G>C , LRG_391:g.298170G>C
NG_051363.1:g.19807C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.91870G>C (TTN)	ENSP00000343764.6:p.Ala30624Pro
ENST00000342175.11:c.72955G>C (TTN)	ENSP00000340554.6:p.Ala24319Pro
ENST00000359218.10:c.72754G>C (TTN)	ENSP00000352154.5:p.Ala24252Pro
ENST00000342175.10:c.72955G>C (TTN)	ENSP00000340554.6:p.Ala24319Pro
ENST00000342992.10:c.91870G>C (TTN)	ENSP00000343764.6:p.Ala30624Pro
ENST00000359218.9:c.72754G>C (TTN)	ENSP00000352154.5:p.Ala24252Pro
ENST00000460472.6:c.72379G>C (TTN)	ENSP00000434586.1:p.Ala24127Pro
ENST00000589042.5:c.99574G>C (TTN) MANE Select	ENSP00000467141.1:p.Ala33192Pro
ENST00000591111.5:c.94651G>C (TTN)	ENSP00000465570.1:p.Ala31551Pro
ENST00000615779.4:c.94651G>C (TTN)	ENSP00000483597.1:p.Ala31551Pro
NM_001256850.1:c.94651G>C (TTN)	NP_001243779.1:p.Ala31551Pro
NM_001267550.2:c.99574G>C (TTN) MANE Select	NP_001254479.2:p.Ala33192Pro
NM_003319.4:c.72379G>C (TTN)	NP_003310.4:p.Ala24127Pro
NM_133378.4:c.91870G>C (TTN)	NP_596869.4:p.Ala30624Pro
NM_133432.3:c.72754G>C (TTN)	NP_597676.3:p.Ala24252Pro
NM_133437.4:c.72955G>C (TTN)	NP_597681.4:p.Ala24319Pro
NR_038271.1:n.446+13997C>G (TTN-AS1)
NR_038272.1:n.589C>G (TTN-AS1)
XM_011511729.1:c.98671G>C (TTN)	XP_011510031.1:p.Ala32891Pro
XM_011511730.1:c.72565G>C (TTN)	XP_011510032.1:p.Ala24189Pro
XM_011511731.1:c.72424G>C (TTN)	XP_011510033.1:p.Ala24142Pro
XM_017004819.1:c.98467G>C (TTN)	XP_016860308.1:p.Ala32823Pro
XM_017004820.1:c.93865G>C (TTN)	XP_016860309.1:p.Ala31289Pro
XM_017004821.1:c.93862G>C (TTN)	XP_016860310.1:p.Ala31288Pro
XM_017004822.1:c.90904G>C (TTN)	XP_016860311.1:p.Ala30302Pro
XM_017004823.1:c.72520G>C (TTN)	XP_016860312.1:p.Ala24174Pro
XM_024453094.1:c.94015G>C (TTN)	XP_024308862.1:p.Ala31339Pro
XM_024453095.1:c.94012G>C (TTN)	XP_024308863.1:p.Ala31338Pro
XM_024453096.1:c.93445G>C (TTN)	XP_024308864.1:p.Ala31149Pro
XM_024453097.1:c.90787G>C (TTN)	XP_024308865.1:p.Ala30263Pro
XM_024453098.1:c.90706G>C (TTN)	XP_024308866.1:p.Ala30236Pro
XM_024453099.1:c.72469G>C (TTN)	XP_024308867.1:p.Ala24157Pro
XM_024453100.1:c.62323G>C (TTN)	XP_024308868.1:p.Ala20775Pro