Canonical Allele Identifier: CA349488471

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178591881-G-C
• MyVariant Identifiers: chr2:g.179456608G>C (hg19) ; chr2:g.178591881G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591881G>C , CM000664.2:g.178591881G>C	GRCh38
NC_000002.11:g.179456608G>C , CM000664.1:g.179456608G>C	GRCh37
NC_000002.10:g.179164854G>C	NCBI36
NG_011618.3:g.243922C>G , LRG_391:g.243922C>G
NG_051363.1:g.74055G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.52234C>G (TTN)	ENSP00000343764.6:p.Pro17412Ala
ENST00000342175.11:c.33319C>G (TTN)	ENSP00000340554.6:p.Pro11107Ala
ENST00000359218.10:c.33118C>G (TTN)	ENSP00000352154.5:p.Pro11040Ala
ENST00000342175.10:c.33319C>G (TTN)	ENSP00000340554.6:p.Pro11107Ala
ENST00000342992.10:c.52234C>G (TTN)	ENSP00000343764.6:p.Pro17412Ala
ENST00000359218.9:c.33118C>G (TTN)	ENSP00000352154.5:p.Pro11040Ala
ENST00000460472.6:c.32743C>G (TTN)	ENSP00000434586.1:p.Pro10915Ala
ENST00000589042.5:c.59938C>G (TTN) MANE Select	ENSP00000467141.1:p.Pro19980Ala
ENST00000591111.5:c.55015C>G (TTN)	ENSP00000465570.1:p.Pro18339Ala
ENST00000615779.4:c.55015C>G (TTN)	ENSP00000483597.1:p.Pro18339Ala
NM_001256850.1:c.55015C>G (TTN)	NP_001243779.1:p.Pro18339Ala
NM_001267550.2:c.59938C>G (TTN) MANE Select	NP_001254479.2:p.Pro19980Ala
NM_003319.4:c.32743C>G (TTN)	NP_003310.4:p.Pro10915Ala
NM_133378.4:c.52234C>G (TTN)	NP_596869.4:p.Pro17412Ala
NM_133432.3:c.33118C>G (TTN)	NP_597676.3:p.Pro11040Ala
NM_133437.4:c.33319C>G (TTN)	NP_597681.4:p.Pro11107Ala
NR_038271.1:n.597-5715G>C (TTN-AS1)
NR_038272.1:n.3364+567G>C (TTN-AS1)
XM_011511729.1:c.59035C>G (TTN)	XP_011510031.1:p.Pro19679Ala
XM_011511730.1:c.32929C>G (TTN)	XP_011510032.1:p.Pro10977Ala
XM_011511731.1:c.32788C>G (TTN)	XP_011510033.1:p.Pro10930Ala
XM_017004819.1:c.58831C>G (TTN)	XP_016860308.1:p.Pro19611Ala
XM_017004820.1:c.54229C>G (TTN)	XP_016860309.1:p.Pro18077Ala
XM_017004821.1:c.54226C>G (TTN)	XP_016860310.1:p.Pro18076Ala
XM_017004822.1:c.51268C>G (TTN)	XP_016860311.1:p.Pro17090Ala
XM_017004823.1:c.32884C>G (TTN)	XP_016860312.1:p.Pro10962Ala
XM_024453094.1:c.54379C>G (TTN)	XP_024308862.1:p.Pro18127Ala
XM_024453095.1:c.54376C>G (TTN)	XP_024308863.1:p.Pro18126Ala
XM_024453096.1:c.53809C>G (TTN)	XP_024308864.1:p.Pro17937Ala
XM_024453097.1:c.51151C>G (TTN)	XP_024308865.1:p.Pro17051Ala
XM_024453098.1:c.51070C>G (TTN)	XP_024308866.1:p.Pro17024Ala
XM_024453099.1:c.32833C>G (TTN)	XP_024308867.1:p.Pro10945Ala
XM_024453100.1:c.22687C>G (TTN)	XP_024308868.1:p.Pro7563Ala