Canonical Allele Identifier: CA430252854

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178567202-T-C
• MyVariant Identifiers: chr2:g.179431929T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178567202T>C , CM000664.2:g.178567202T>C	GRCh38
NC_000002.11:g.179431929T>C , CM000664.1:g.179431929T>C	GRCh37
NC_000002.10:g.179140175T>C	NCBI36
NG_011618.3:g.268601A>G , LRG_391:g.268601A>G
NG_051363.1:g.49376T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.71226A>G (TTN)	ENSP00000343764.6:p.Pro23742=
ENST00000342175.11:c.52311A>G (TTN)	ENSP00000340554.6:p.Pro17437=
ENST00000359218.10:c.52110A>G (TTN)	ENSP00000352154.5:p.Pro17370=
ENST00000342175.10:c.52311A>G (TTN)	ENSP00000340554.6:p.Pro17437=
ENST00000342992.10:c.71226A>G (TTN)	ENSP00000343764.6:p.Pro23742=
ENST00000359218.9:c.52110A>G (TTN)	ENSP00000352154.5:p.Pro17370=
ENST00000460472.6:c.51735A>G (TTN)	ENSP00000434586.1:p.Pro17245=
ENST00000589042.5:c.78930A>G (TTN) MANE Select	ENSP00000467141.1:p.Pro26310=
ENST00000591111.5:c.74007A>G (TTN)	ENSP00000465570.1:p.Pro24669=
ENST00000615779.4:c.74007A>G (TTN)	ENSP00000483597.1:p.Pro24669=
NM_001256850.1:c.74007A>G (TTN)	NP_001243779.1:p.Pro24669=
NM_001267550.2:c.78930A>G (TTN) MANE Select	NP_001254479.2:p.Pro26310=
NM_003319.4:c.51735A>G (TTN)	NP_003310.4:p.Pro17245=
NM_133378.4:c.71226A>G (TTN)	NP_596869.4:p.Pro23742=
NM_133432.3:c.52110A>G (TTN)	NP_597676.3:p.Pro17370=
NM_133437.4:c.52311A>G (TTN)	NP_597681.4:p.Pro17437=
NR_038271.1:n.447-4098T>C (TTN-AS1)
NR_038272.1:n.2044-15370T>C (TTN-AS1)
XM_011511729.1:c.78027A>G (TTN)	XP_011510031.1:p.Pro26009=
XM_011511730.1:c.51921A>G (TTN)	XP_011510032.1:p.Pro17307=
XM_011511731.1:c.51780A>G (TTN)	XP_011510033.1:p.Pro17260=
XM_017004819.1:c.77823A>G (TTN)	XP_016860308.1:p.Pro25941=
XM_017004820.1:c.73221A>G (TTN)	XP_016860309.1:p.Pro24407=
XM_017004821.1:c.73218A>G (TTN)	XP_016860310.1:p.Pro24406=
XM_017004822.1:c.70260A>G (TTN)	XP_016860311.1:p.Pro23420=
XM_017004823.1:c.51876A>G (TTN)	XP_016860312.1:p.Pro17292=
XM_024453094.1:c.73371A>G (TTN)	XP_024308862.1:p.Pro24457=
XM_024453095.1:c.73368A>G (TTN)	XP_024308863.1:p.Pro24456=
XM_024453096.1:c.72801A>G (TTN)	XP_024308864.1:p.Pro24267=
XM_024453097.1:c.70143A>G (TTN)	XP_024308865.1:p.Pro23381=
XM_024453098.1:c.70062A>G (TTN)	XP_024308866.1:p.Pro23354=
XM_024453099.1:c.51825A>G (TTN)	XP_024308867.1:p.Pro17275=
XM_024453100.1:c.41679A>G (TTN)	XP_024308868.1:p.Pro13893=