Canonical Allele Identifier: CA430254178

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1158750353
• gnomAD v2: 2-179434047-T-C
• gnomAD v4: 2-178569320-T-C
• MyVariant Identifiers: chr2:g.179434047T>C (hg19) ; chr2:g.178569320T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569320T>C , CM000664.2:g.178569320T>C	GRCh38
NC_000002.11:g.179434047T>C , CM000664.1:g.179434047T>C	GRCh37
NC_000002.10:g.179142293T>C	NCBI36
NG_011618.3:g.266483A>G , LRG_391:g.266483A>G
NG_051363.1:g.51494T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.69108A>G (TTN)	ENSP00000343764.6:p.Pro23036=
ENST00000342175.11:c.50193A>G (TTN)	ENSP00000340554.6:p.Pro16731=
ENST00000359218.10:c.49992A>G (TTN)	ENSP00000352154.5:p.Pro16664=
ENST00000342175.10:c.50193A>G (TTN)	ENSP00000340554.6:p.Pro16731=
ENST00000342992.10:c.69108A>G (TTN)	ENSP00000343764.6:p.Pro23036=
ENST00000359218.9:c.49992A>G (TTN)	ENSP00000352154.5:p.Pro16664=
ENST00000460472.6:c.49617A>G (TTN)	ENSP00000434586.1:p.Pro16539=
ENST00000589042.5:c.76812A>G (TTN) MANE Select	ENSP00000467141.1:p.Pro25604=
ENST00000591111.5:c.71889A>G (TTN)	ENSP00000465570.1:p.Pro23963=
ENST00000615779.4:c.71889A>G (TTN)	ENSP00000483597.1:p.Pro23963=
NM_001256850.1:c.71889A>G (TTN)	NP_001243779.1:p.Pro23963=
NM_001267550.2:c.76812A>G (TTN) MANE Select	NP_001254479.2:p.Pro25604=
NM_003319.4:c.49617A>G (TTN)	NP_003310.4:p.Pro16539=
NM_133378.4:c.69108A>G (TTN)	NP_596869.4:p.Pro23036=
NM_133432.3:c.49992A>G (TTN)	NP_597676.3:p.Pro16664=
NM_133437.4:c.50193A>G (TTN)	NP_597681.4:p.Pro16731=
NR_038271.1:n.447-1980T>C (TTN-AS1)
NR_038272.1:n.2044-13252T>C (TTN-AS1)
XM_011511729.1:c.75909A>G (TTN)	XP_011510031.1:p.Pro25303=
XM_011511730.1:c.49803A>G (TTN)	XP_011510032.1:p.Pro16601=
XM_011511731.1:c.49662A>G (TTN)	XP_011510033.1:p.Pro16554=
XM_017004819.1:c.75705A>G (TTN)	XP_016860308.1:p.Pro25235=
XM_017004820.1:c.71103A>G (TTN)	XP_016860309.1:p.Pro23701=
XM_017004821.1:c.71100A>G (TTN)	XP_016860310.1:p.Pro23700=
XM_017004822.1:c.68142A>G (TTN)	XP_016860311.1:p.Pro22714=
XM_017004823.1:c.49758A>G (TTN)	XP_016860312.1:p.Pro16586=
XM_024453094.1:c.71253A>G (TTN)	XP_024308862.1:p.Pro23751=
XM_024453095.1:c.71250A>G (TTN)	XP_024308863.1:p.Pro23750=
XM_024453096.1:c.70683A>G (TTN)	XP_024308864.1:p.Pro23561=
XM_024453097.1:c.68025A>G (TTN)	XP_024308865.1:p.Pro22675=
XM_024453098.1:c.67944A>G (TTN)	XP_024308866.1:p.Pro22648=
XM_024453099.1:c.49707A>G (TTN)	XP_024308867.1:p.Pro16569=
XM_024453100.1:c.39561A>G (TTN)	XP_024308868.1:p.Pro13187=