Canonical Allele Identifier: CA349613838

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1707254187
• gnomAD v3: 2-178569328-G-A
• gnomAD v4: 2-178569328-G-A
• MyVariant Identifiers: chr2:g.179434055G>A (hg19) ; chr2:g.178569328G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569328G>A , CM000664.2:g.178569328G>A	GRCh38
NC_000002.11:g.179434055G>A , CM000664.1:g.179434055G>A	GRCh37
NC_000002.10:g.179142301G>A	NCBI36
NG_011618.3:g.266475C>T , LRG_391:g.266475C>T
NG_051363.1:g.51502G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.69100C>T (TTN)	ENSP00000343764.6:p.Pro23034Ser
ENST00000342175.11:c.50185C>T (TTN)	ENSP00000340554.6:p.Pro16729Ser
ENST00000359218.10:c.49984C>T (TTN)	ENSP00000352154.5:p.Pro16662Ser
ENST00000342175.10:c.50185C>T (TTN)	ENSP00000340554.6:p.Pro16729Ser
ENST00000342992.10:c.69100C>T (TTN)	ENSP00000343764.6:p.Pro23034Ser
ENST00000359218.9:c.49984C>T (TTN)	ENSP00000352154.5:p.Pro16662Ser
ENST00000460472.6:c.49609C>T (TTN)	ENSP00000434586.1:p.Pro16537Ser
ENST00000589042.5:c.76804C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro25602Ser
ENST00000591111.5:c.71881C>T (TTN)	ENSP00000465570.1:p.Pro23961Ser
ENST00000615779.4:c.71881C>T (TTN)	ENSP00000483597.1:p.Pro23961Ser
NM_001256850.1:c.71881C>T (TTN)	NP_001243779.1:p.Pro23961Ser
NM_001267550.2:c.76804C>T (TTN) MANE Select	NP_001254479.2:p.Pro25602Ser
NM_003319.4:c.49609C>T (TTN)	NP_003310.4:p.Pro16537Ser
NM_133378.4:c.69100C>T (TTN)	NP_596869.4:p.Pro23034Ser
NM_133432.3:c.49984C>T (TTN)	NP_597676.3:p.Pro16662Ser
NM_133437.4:c.50185C>T (TTN)	NP_597681.4:p.Pro16729Ser
NR_038271.1:n.447-1972G>A (TTN-AS1)
NR_038272.1:n.2044-13244G>A (TTN-AS1)
XM_011511729.1:c.75901C>T (TTN)	XP_011510031.1:p.Pro25301Ser
XM_011511730.1:c.49795C>T (TTN)	XP_011510032.1:p.Pro16599Ser
XM_011511731.1:c.49654C>T (TTN)	XP_011510033.1:p.Pro16552Ser
XM_017004819.1:c.75697C>T (TTN)	XP_016860308.1:p.Pro25233Ser
XM_017004820.1:c.71095C>T (TTN)	XP_016860309.1:p.Pro23699Ser
XM_017004821.1:c.71092C>T (TTN)	XP_016860310.1:p.Pro23698Ser
XM_017004822.1:c.68134C>T (TTN)	XP_016860311.1:p.Pro22712Ser
XM_017004823.1:c.49750C>T (TTN)	XP_016860312.1:p.Pro16584Ser
XM_024453094.1:c.71245C>T (TTN)	XP_024308862.1:p.Pro23749Ser
XM_024453095.1:c.71242C>T (TTN)	XP_024308863.1:p.Pro23748Ser
XM_024453096.1:c.70675C>T (TTN)	XP_024308864.1:p.Pro23559Ser
XM_024453097.1:c.68017C>T (TTN)	XP_024308865.1:p.Pro22673Ser
XM_024453098.1:c.67936C>T (TTN)	XP_024308866.1:p.Pro22646Ser
XM_024453099.1:c.49699C>T (TTN)	XP_024308867.1:p.Pro16567Ser
XM_024453100.1:c.39553C>T (TTN)	XP_024308868.1:p.Pro13185Ser