Canonical Allele Identifier: CA349454740

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178544202-T-C
• MyVariant Identifiers: chr2:g.179408929T>C (hg19) ; chr2:g.178544202T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544202T>C , CM000664.2:g.178544202T>C	GRCh38
NC_000002.11:g.179408929T>C , CM000664.1:g.179408929T>C	GRCh37
NC_000002.10:g.179117175T>C	NCBI36
NG_011618.3:g.291601A>G , LRG_391:g.291601A>G
NG_051363.1:g.26376T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.88323A>G (TTN)	ENSP00000343764.6:p.Ile29441Met
ENST00000342175.11:c.69408A>G (TTN)	ENSP00000340554.6:p.Ile23136Met
ENST00000359218.10:c.69207A>G (TTN)	ENSP00000352154.5:p.Ile23069Met
ENST00000342175.10:c.69408A>G (TTN)	ENSP00000340554.6:p.Ile23136Met
ENST00000342992.10:c.88323A>G (TTN)	ENSP00000343764.6:p.Ile29441Met
ENST00000359218.9:c.69207A>G (TTN)	ENSP00000352154.5:p.Ile23069Met
ENST00000460472.6:c.68832A>G (TTN)	ENSP00000434586.1:p.Ile22944Met
ENST00000589042.5:c.96027A>G (TTN) MANE Select	ENSP00000467141.1:p.Ile32009Met
ENST00000591111.5:c.91104A>G (TTN)	ENSP00000465570.1:p.Ile30368Met
ENST00000615779.4:c.91104A>G (TTN)	ENSP00000483597.1:p.Ile30368Met
NM_001256850.1:c.91104A>G (TTN)	NP_001243779.1:p.Ile30368Met
NM_001267550.2:c.96027A>G (TTN) MANE Select	NP_001254479.2:p.Ile32009Met
NM_003319.4:c.68832A>G (TTN)	NP_003310.4:p.Ile22944Met
NM_133378.4:c.88323A>G (TTN)	NP_596869.4:p.Ile29441Met
NM_133432.3:c.69207A>G (TTN)	NP_597676.3:p.Ile23069Met
NM_133437.4:c.69408A>G (TTN)	NP_597681.4:p.Ile23136Met
NR_038271.1:n.446+20566T>C (TTN-AS1)
NR_038272.1:n.2043+1841T>C (TTN-AS1)
XM_011511729.1:c.95124A>G (TTN)	XP_011510031.1:p.Ile31708Met
XM_011511730.1:c.69018A>G (TTN)	XP_011510032.1:p.Ile23006Met
XM_011511731.1:c.68877A>G (TTN)	XP_011510033.1:p.Ile22959Met
XM_017004819.1:c.94920A>G (TTN)	XP_016860308.1:p.Ile31640Met
XM_017004820.1:c.90318A>G (TTN)	XP_016860309.1:p.Ile30106Met
XM_017004821.1:c.90315A>G (TTN)	XP_016860310.1:p.Ile30105Met
XM_017004822.1:c.87357A>G (TTN)	XP_016860311.1:p.Ile29119Met
XM_017004823.1:c.68973A>G (TTN)	XP_016860312.1:p.Ile22991Met
XM_024453094.1:c.90468A>G (TTN)	XP_024308862.1:p.Ile30156Met
XM_024453095.1:c.90465A>G (TTN)	XP_024308863.1:p.Ile30155Met
XM_024453096.1:c.89898A>G (TTN)	XP_024308864.1:p.Ile29966Met
XM_024453097.1:c.87240A>G (TTN)	XP_024308865.1:p.Ile29080Met
XM_024453098.1:c.87159A>G (TTN)	XP_024308866.1:p.Ile29053Met
XM_024453099.1:c.68922A>G (TTN)	XP_024308867.1:p.Ile22974Met
XM_024453100.1:c.58776A>G (TTN)	XP_024308868.1:p.Ile19592Met