Canonical Allele Identifier: CA349434753

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178539950-T-G
• MyVariant Identifiers: chr2:g.179404677T>G (hg19) ; chr2:g.178539950T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178539950T>G , CM000664.2:g.178539950T>G	GRCh38
NC_000002.11:g.179404677T>G , CM000664.1:g.179404677T>G	GRCh37
NC_000002.10:g.179112923T>G	NCBI36
NG_011618.3:g.295853A>C , LRG_391:g.295853A>C
NG_051363.1:g.22124T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.90411A>C (TTN)	ENSP00000343764.6:p.Glu30137Asp
ENST00000342175.11:c.71496A>C (TTN)	ENSP00000340554.6:p.Glu23832Asp
ENST00000359218.10:c.71295A>C (TTN)	ENSP00000352154.5:p.Glu23765Asp
ENST00000342175.10:c.71496A>C (TTN)	ENSP00000340554.6:p.Glu23832Asp
ENST00000342992.10:c.90411A>C (TTN)	ENSP00000343764.6:p.Glu30137Asp
ENST00000359218.9:c.71295A>C (TTN)	ENSP00000352154.5:p.Glu23765Asp
ENST00000460472.6:c.70920A>C (TTN)	ENSP00000434586.1:p.Glu23640Asp
ENST00000589042.5:c.98115A>C (TTN) MANE Select	ENSP00000467141.1:p.Glu32705Asp
ENST00000591111.5:c.93192A>C (TTN)	ENSP00000465570.1:p.Glu31064Asp
ENST00000615779.4:c.93192A>C (TTN)	ENSP00000483597.1:p.Glu31064Asp
NM_001256850.1:c.93192A>C (TTN)	NP_001243779.1:p.Glu31064Asp
NM_001267550.2:c.98115A>C (TTN) MANE Select	NP_001254479.2:p.Glu32705Asp
NM_003319.4:c.70920A>C (TTN)	NP_003310.4:p.Glu23640Asp
NM_133378.4:c.90411A>C (TTN)	NP_596869.4:p.Glu30137Asp
NM_133432.3:c.71295A>C (TTN)	NP_597676.3:p.Glu23765Asp
NM_133437.4:c.71496A>C (TTN)	NP_597681.4:p.Glu23832Asp
NR_038271.1:n.446+16314T>G (TTN-AS1)
NR_038272.1:n.1840+60T>G (TTN-AS1)
XM_011511729.1:c.97212A>C (TTN)	XP_011510031.1:p.Glu32404Asp
XM_011511730.1:c.71106A>C (TTN)	XP_011510032.1:p.Glu23702Asp
XM_011511731.1:c.70965A>C (TTN)	XP_011510033.1:p.Glu23655Asp
XM_017004819.1:c.97008A>C (TTN)	XP_016860308.1:p.Glu32336Asp
XM_017004820.1:c.92406A>C (TTN)	XP_016860309.1:p.Glu30802Asp
XM_017004821.1:c.92403A>C (TTN)	XP_016860310.1:p.Glu30801Asp
XM_017004822.1:c.89445A>C (TTN)	XP_016860311.1:p.Glu29815Asp
XM_017004823.1:c.71061A>C (TTN)	XP_016860312.1:p.Glu23687Asp
XM_024453094.1:c.92556A>C (TTN)	XP_024308862.1:p.Glu30852Asp
XM_024453095.1:c.92553A>C (TTN)	XP_024308863.1:p.Glu30851Asp
XM_024453096.1:c.91986A>C (TTN)	XP_024308864.1:p.Glu30662Asp
XM_024453097.1:c.89328A>C (TTN)	XP_024308865.1:p.Glu29776Asp
XM_024453098.1:c.89247A>C (TTN)	XP_024308866.1:p.Glu29749Asp
XM_024453099.1:c.71010A>C (TTN)	XP_024308867.1:p.Glu23670Asp
XM_024453100.1:c.60864A>C (TTN)	XP_024308868.1:p.Glu20288Asp